5088 lines
No EOL
200 KiB
HTML
5088 lines
No EOL
200 KiB
HTML
<!DOCTYPE html>
|
||
|
||
|
||
|
||
|
||
<html lang="en" >
|
||
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
|
||
<meta charset="UTF-8">
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge">
|
||
|
||
<!-- Mobile properties -->
|
||
<meta name="HandheldFriendly" content="True">
|
||
<meta name="MobileOptimized" content="320">
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0">
|
||
|
||
|
||
|
||
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.google-analytics.com">
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.b576742ffc3e.css" type="text/css">
|
||
|
||
|
||
|
||
<title>New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder - PubMed</title>
|
||
|
||
|
||
|
||
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
|
||
|
||
|
||
|
||
<!-- Favicons -->
|
||
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
|
||
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
|
||
|
||
<!-- 192x192, as recommended for Android
|
||
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
|
||
-->
|
||
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
|
||
|
||
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
|
||
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
|
||
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
|
||
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
|
||
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
|
||
|
||
|
||
<!-- For Pinger + Google Optimize integration (NS-820) -->
|
||
<meta name="ncbi_sg_optimize_id" content="">
|
||
|
||
<!-- Mobile browser address bar color -->
|
||
<meta name="theme-color" content="#20558a">
|
||
|
||
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
|
||
<meta name="referrer" content="origin-when-cross-origin">
|
||
|
||
<meta name="ncbi_pinger_gtm_track" content="true"/>
|
||
<!-- Logging params: Pinger defaults -->
|
||
|
||
|
||
<meta name="ncbi_app" content="pubmed" />
|
||
|
||
|
||
|
||
<meta name="ncbi_db" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
|
||
<meta name="ncbi_phid" content="1B6900014F9DA1C500002F06B030A5D2.1.m_6" />
|
||
|
||
|
||
|
||
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
|
||
|
||
|
||
|
||
<meta name="log_category" content="literature" />
|
||
|
||
|
||
|
||
<meta name="ncbi_cost_center" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
<!-- Logging params: Pinger custom -->
|
||
|
||
<meta name="ncbi_pdid" content="abstract" />
|
||
|
||
<meta name="log_op" content="retrieve" />
|
||
|
||
<meta name="uid" content="34338890" />
|
||
|
||
<meta name="ncbi_uid" content="34338890" />
|
||
|
||
<meta name="log_displayeduids" content="34338890" />
|
||
|
||
<meta name="log_source_db" content="pubmed,pmc" />
|
||
|
||
<meta name="log_icons_present" content="true" />
|
||
|
||
<meta name="ncbi_search_id" content="4JCPH0qqnSlbfLz62dG0MQ:0267862fbb6e269dabd2108a39499167" />
|
||
|
||
<meta name="ncbi_adj_nav_search_id" content="QRRK1Hdzh_YcLfpUFYIVEQ:0267862fbb6e269dabd2108a39499167" />
|
||
|
||
|
||
|
||
|
||
<!-- Social meta tags for unfurling urls -->
|
||
|
||
<meta name="description" content="Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilatera …"><meta name="keywords" content="pmid:34338890, PMC11330641, doi:10.1007/s00439-021-02319-7, Review, Rabia Faridi, Alessandro Rea, Thomas B Friedman, Amino Acyl-tRNA Synthetases* / genetics, Cell Cycle Proteins / genetics, Child, Female, Gonadal Dysgenesis, 46,XX* / genetics, Hearing Loss, Sensorineural* / genetics, Humans, Male, Mutation, Pedigree, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/34338890/"><meta property="og:description" content="Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilatera …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/34338890/"><meta name="twitter:description" content="Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilatera …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
|
||
|
||
|
||
<!-- OpenSearch XML -->
|
||
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
|
||
|
||
<!-- Disables severely broken elements when no JS -->
|
||
<noscript>
|
||
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
|
||
</noscript>
|
||
|
||
|
||
|
||
<meta name="citation_title" content="New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder">
|
||
|
||
|
||
<meta name="citation_authors" content="Faridi R;Rea A;Fenollar-Ferrer C;O'Keefe RT;Gu S;Munir Z;Khan AA;Riazuddin S;Hoa M;Naz S;Newman WG;Friedman TB;">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_date" content="2022 Apr">
|
||
|
||
|
||
|
||
<meta name="citation_publisher" content="Hum Genet">
|
||
|
||
<meta name="citation_journal_title" content="Human genetics">
|
||
<meta name="citation_pmid" content="34338890">
|
||
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/34338890/">
|
||
|
||
|
||
<meta name="citation_volume" content="141">
|
||
|
||
|
||
<meta name="citation_issue" content="3-4">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_doi" content="10.1007/s00439-021-02319-7">
|
||
|
||
|
||
<meta name="citation_issn" content="1432-1203">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/34338890/" />
|
||
|
||
|
||
|
||
</head>
|
||
<body >
|
||
|
||
|
||
|
||
<noscript>
|
||
<div class="no-script-banner" id="no-script-banner">
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</noscript>
|
||
|
||
<div class="no-session-banner" id="no-session-banner" hidden>
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
Clipboard, Search History, and several other advanced features are temporarily unavailable.
|
||
</div>
|
||
<button class="close-banner-button"
|
||
title="Close Clipboard and Search History not available warning banner"
|
||
ref="linksrc=close_no_session_banner"
|
||
aria-controls="no-session-banner"
|
||
aria-label="Close Clipboard and Search History not available warning banner"
|
||
aria-expanded="true">
|
||
</button>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<a class="usa-skipnav" href="#article-details">
|
||
Skip to main page content
|
||
</a>
|
||
|
||
<!-- ========== BEGIN HEADER ========== -->
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button
|
||
class="usa-accordion-button usa-banner-button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-top"
|
||
>
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner-content usa-grid usa-accordion-content"
|
||
id="gov-banner-top"
|
||
>
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
|
||
alt="Dot gov"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it’s official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you’re on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
|
||
alt="Https"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none"
|
||
aria-controls="account_popup">
|
||
<span class="fa fa-user" aria-hidden="true"></span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br/>
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
<!-- ========== END HEADER ========== -->
|
||
|
||
|
||
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
|
||
|
||
|
||
|
||
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
|
||
<div class="inner-wrap">
|
||
<a class="pubmed-logo"
|
||
aria-label="Pubmed Logo"
|
||
href="/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="pubmed_logo">
|
||
|
||
|
||
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
|
||
|
||
</a>
|
||
|
||
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
|
||
</a>
|
||
|
||
<div role="search" class="search-input">
|
||
|
||
|
||
<div class="form-field ">
|
||
|
||
|
||
<label class="usa-sr-only" for="id_term">
|
||
Search:
|
||
</label>
|
||
|
||
|
||
|
||
<input
|
||
type="search"
|
||
name="term"
|
||
|
||
data-skip-ie-scroll-to-top=""
|
||
data-replace-term-with-exact=""
|
||
data-exact-query=""
|
||
placeholder=""
|
||
class="term-input"
|
||
required="required"
|
||
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- Create alert and Create RSS are buttons that look like links -->
|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 34338890 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 34338890"/>
|
||
<input type="hidden" name="email-subject-hash" value="cf7afe6441f0a1274183b2a1298403e0d1a2aae0fe0821f972d66c19b5664772"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="34338890">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://dx.doi.org/10.1007/s00439-021-02319-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3055&itool=Abstract-def&log$=linkouticon&uid=34338890&db=pubmed&nlmid=7613873"
|
||
title="See full text options at Springer"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Springer"
|
||
data-ga-label="34338890"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
|
||
|
||
Springer
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/34338890/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=34338890&db=pubmed&nlmid=7613873"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="34338890"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/34338890/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/34338890/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="34338890" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
<a href="http://twitter.com/intent/tweet?text=New%20insights%20into%20Perrault%20syndrome%2C%20a%20clinically%20and%20genetically%20heterogeneous%20disorder%20https%3A//pubmed.ncbi.nlm.nih.gov/34338890/"
|
||
class="share-link share-link-twitter"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Twitter"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="twitter"></a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/34338890/"
|
||
class="share-link share-link-facebook"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Facebook"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="fb"></a>
|
||
</li>
|
||
|
||
<li>
|
||
<div class="share-permalink">
|
||
<button class="trigger"
|
||
title="Show article permalink"
|
||
ref="linksrc=show_permalink_btn">
|
||
</button>
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Permalink
|
||
</div>
|
||
<div class="content">
|
||
|
||
|
||
<input type="text"
|
||
class="permalink-text"
|
||
value="https://pubmed.ncbi.nlm.nih.gov/34338890/"
|
||
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
|
||
title="Copy article permalink"
|
||
data-ga-category="save_share"
|
||
data-ga-action="link"
|
||
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Page navigation
|
||
</h3>
|
||
<ul class="items-list">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="heading ">
|
||
<a href="#heading"
|
||
aria-label="navigate to Title & authors section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="heading">
|
||
Title & authors
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="abstract ">
|
||
<a href="#abstract"
|
||
aria-label="navigate to Abstract section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="abstract">
|
||
Abstract
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="conflict-of-interest ">
|
||
<a href="#conflict-of-interest"
|
||
aria-label="navigate to Conflict of interest statement section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="conflict-of-interest">
|
||
Conflict of interest statement
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="figures ">
|
||
<a href="#figures"
|
||
aria-label="navigate to Figures section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="figures">
|
||
Figures
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="similar ">
|
||
<a href="#similar"
|
||
aria-label="navigate to Similar articles section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="similar">
|
||
Similar articles
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="citedby ">
|
||
<a href="#citedby"
|
||
aria-label="navigate to Cited by section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="citedby">
|
||
Cited by
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="references ">
|
||
<a href="#references"
|
||
aria-label="navigate to References section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="references">
|
||
References
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="publication-types ">
|
||
<a href="#publication-types"
|
||
aria-label="navigate to Publication types section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="publication-types">
|
||
Publication types
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="mesh-terms ">
|
||
<a href="#mesh-terms"
|
||
aria-label="navigate to MeSH terms section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="mesh-terms">
|
||
MeSH terms
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="substances ">
|
||
<a href="#substances"
|
||
aria-label="navigate to Substances section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="substances">
|
||
Substances
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="supplementary-concepts ">
|
||
<a href="#supplementary-concepts"
|
||
aria-label="navigate to Supplementary concepts section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="supplementary-concepts">
|
||
Supplementary concepts
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="related-links ">
|
||
<a href="#related-links"
|
||
aria-label="navigate to Related information section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="related-links">
|
||
Related information
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="grants ">
|
||
<a href="#grants"
|
||
aria-label="navigate to Grants and funding section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="grants">
|
||
Grants and funding
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="linkout ">
|
||
<a href="#linkout"
|
||
aria-label="navigate to LinkOut - more resources section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="linkout">
|
||
LinkOut - more resources
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="heading">Title & authors</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="abstract">Abstract</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="conflict-of-interest">Conflict of interest statement</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="figures">Figures</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="similar">Similar articles</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="citedby">Cited by</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="references">References</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="publication-types">Publication types</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="mesh-terms">MeSH terms</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="substances">Substances</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="supplementary-concepts">Supplementary concepts</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="related-links">Related information</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="grants">Grants and funding</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="linkout">LinkOut - more resources</option>
|
||
|
||
|
||
|
||
|
||
|
||
</select>
|
||
</nav>
|
||
|
||
</div>
|
||
</aside>
|
||
|
||
<main class="article-details" id="article-details">
|
||
|
||
|
||
<!-- "Filters applied" shows only when page is redirected from search -->
|
||
<!-- because search found one result -->
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<header class="heading" id="heading">
|
||
|
||
|
||
<div class="full-view" id="full-view-heading">
|
||
|
||
<div class="article-citation">
|
||
|
||
<div class="publication-type" >Review</div>
|
||
|
||
|
||
|
||
|
||
<div class="article-source">
|
||
|
||
<div class="journal-actions dropdown-block"><button id="full-view-journal-trigger"
|
||
class="journal-actions-trigger trigger"
|
||
ref="linksrc=journal_actions_btn"
|
||
title="Human genetics"
|
||
tabindex="0"
|
||
aria-controls="full-view-journal"
|
||
aria-expanded="false"
|
||
aria-label="Toggle dropdown menu for journal Human genetics"
|
||
data-pinger-ignore>
|
||
Hum Genet
|
||
</button><div id="full-view-journal"
|
||
class="journal-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for journal Human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Hum Genet"
|
||
data-ga-category="search"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Hum Genet">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
|
||
ref ="linksrc=search_in_nlm_catalog_link"
|
||
|
||
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Hum+Genet%22%5BTitle+Abbreviation%5D"
|
||
|
||
data-ga-category="search_catalog"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Hum Genet">
|
||
Search in NLM Catalog
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref ="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term='"Hum Genet"[jour]'
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label='"Hum Genet"[jour]'
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2022 Apr;141(3-4):805-819.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1007/s00439-021-02319-7.
|
||
</span>
|
||
|
||
|
||
|
||
<span class="secondary-date">
|
||
Epub 2021 Aug 2.
|
||
</span>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="inline-authors">
|
||
|
||
|
||
|
||
|
||
|
||
<div class="authors">
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Faridi+R&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Rabia Faridi">Rabia Faridi</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#full-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rea+A&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alessandro Rea">Alessandro Rea</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#full-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fenollar-Ferrer+C&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Cristina Fenollar-Ferrer">Cristina Fenollar-Ferrer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=O%27Keefe+RT&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Raymond T O'Keefe">Raymond T O'Keefe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gu+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Shoujun Gu">Shoujun Gu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Munir+Z&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Zunaira Munir">Zunaira Munir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="present address: Department of Neurosciences, University of Turin, 10124, Turin, Italy." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Khan+AA&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Asma Ali Khan">Asma Ali Khan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54000, Pakistan." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Riazuddin+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sheikh Riazuddin">Sheikh Riazuddin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, 54550, Pakistan." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hoa+M&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Michael Hoa">Michael Hoa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Naz+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sadaf Naz">Sadaf Naz</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Newman+WG&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="William G Newman">William G Newman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK. william.newman@manchester.ac.uk." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK. william.newman@manchester.ac.uk." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Friedman+TB&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Thomas B Friedman">Thomas B Friedman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<div class="short-article-details">
|
||
|
||
|
||
|
||
Affiliations
|
||
|
||
|
||
|
||
<button
|
||
class="more-details"
|
||
id="toggle-authors"
|
||
data-alt-text="Collapse"
|
||
aria-controls="expanded-authors"
|
||
aria-expanded="false"
|
||
data-pinger-ignore
|
||
data-fetch-url="/34338890/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">
|
||
Expand
|
||
</span>
|
||
</button>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="full-view-expanded-authors">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="full-view-affiliation-1"
|
||
id="full-view-affiliation-1"
|
||
><sup class="key">1</sup> Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-2"
|
||
id="full-view-affiliation-2"
|
||
><sup class="key">2</sup> Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-3"
|
||
id="full-view-affiliation-3"
|
||
><sup class="key">3</sup> Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-4"
|
||
id="full-view-affiliation-4"
|
||
><sup class="key">4</sup> Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-5"
|
||
id="full-view-affiliation-5"
|
||
><sup class="key">5</sup> School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-6"
|
||
id="full-view-affiliation-6"
|
||
><sup class="key">6</sup> present address: Department of Neurosciences, University of Turin, 10124, Turin, Italy.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-7"
|
||
id="full-view-affiliation-7"
|
||
><sup class="key">7</sup> Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54000, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-8"
|
||
id="full-view-affiliation-8"
|
||
><sup class="key">8</sup> Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, 54550, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-9"
|
||
id="full-view-affiliation-9"
|
||
><sup class="key">9</sup> Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK. william.newman@manchester.ac.uk.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-10"
|
||
id="full-view-affiliation-10"
|
||
><sup class="key">10</sup> Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK. william.newman@manchester.ac.uk.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-11"
|
||
id="full-view-affiliation-11"
|
||
><sup class="key">11</sup> Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div class="equal-contrib-block">
|
||
<div class="equal-contrib-explanation" id="full-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<ul class="identifiers" id="full-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">34338890</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC11330641&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11330641/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC11330641
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1007/s00439-021-02319-7&id_type=DOI"
|
||
href="https://doi.org/10.1007/s00439-021-02319-7"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1007/s00439-021-02319-7
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
<div class="short-view" id="short-view-heading">
|
||
|
||
<div class="publication-type" >Review</div>
|
||
|
||
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="short-citation">
|
||
<span class="authors-list">
|
||
|
||
|
||
<span class="authors-list-item "><span class="full-name">Rabia Faridi</span><span class="citation-separator"> et al.</span></span>
|
||
|
||
|
||
</span>
|
||
|
||
|
||
<span class="citation-journal">
|
||
Hum Genet<span class="citation-separator">.</span>
|
||
</span>
|
||
|
||
<span class="date">
|
||
<span class="citation-year">2022 Apr</span><span class="citation-separator">.</span>
|
||
</span>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<div class="more-article-details-section with-display-settings">
|
||
<button class="more-article-details"
|
||
id="toggle-article-details"
|
||
data-alt-text="Hide details"
|
||
ref="linksrc=toggle_article_details"
|
||
aria-controls="full-article-details"
|
||
aria-expanded="false"
|
||
data-fetch-url="/34338890/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">Show details</span>
|
||
</button>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
|
||
|
||
<div class="article-citation">
|
||
|
||
|
||
<div class="article-source">
|
||
|
||
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
|
||
class="journal-actions-trigger trigger"
|
||
ref="linksrc=journal_actions_btn"
|
||
title="Human genetics"
|
||
tabindex="0"
|
||
aria-controls="short-view-journal"
|
||
aria-expanded="false"
|
||
aria-label="Toggle dropdown menu for journal Human genetics"
|
||
data-pinger-ignore>
|
||
Hum Genet
|
||
</button><div id="short-view-journal"
|
||
class="journal-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for journal Human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Hum Genet"
|
||
data-ga-category="search"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Hum Genet">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
|
||
ref ="linksrc=search_in_nlm_catalog_link"
|
||
|
||
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Hum+Genet%22%5BTitle+Abbreviation%5D"
|
||
|
||
data-ga-category="search_catalog"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Hum Genet">
|
||
Search in NLM Catalog
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref ="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term='"Hum Genet"[jour]'
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label='"Hum Genet"[jour]'
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2022 Apr;141(3-4):805-819.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1007/s00439-021-02319-7.
|
||
</span>
|
||
|
||
|
||
|
||
<span class="secondary-date">
|
||
Epub 2021 Aug 2.
|
||
</span>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="short-view-expanded-authors">
|
||
|
||
<div class="authors">
|
||
<h3 class="title">
|
||
Authors
|
||
</h3>
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Faridi+R&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Rabia Faridi">Rabia Faridi</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#short-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rea+A&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alessandro Rea">Alessandro Rea</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#short-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fenollar-Ferrer+C&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Cristina Fenollar-Ferrer">Cristina Fenollar-Ferrer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=O%27Keefe+RT&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Raymond T O'Keefe">Raymond T O'Keefe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gu+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Shoujun Gu">Shoujun Gu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Munir+Z&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Zunaira Munir">Zunaira Munir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="present address: Department of Neurosciences, University of Turin, 10124, Turin, Italy." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Khan+AA&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Asma Ali Khan">Asma Ali Khan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54000, Pakistan." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Riazuddin+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sheikh Riazuddin">Sheikh Riazuddin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, 54550, Pakistan." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hoa+M&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Michael Hoa">Michael Hoa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Naz+S&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sadaf Naz">Sadaf Naz</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Newman+WG&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="William G Newman">William G Newman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK. william.newman@manchester.ac.uk." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK. william.newman@manchester.ac.uk." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Friedman+TB&cauthor_id=34338890"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Thomas B Friedman">Thomas B Friedman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> present address: Department of Neurosciences, University of Turin, 10124, Turin, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54000, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, 54550, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK. william.newman@manchester.ac.uk.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK. william.newman@manchester.ac.uk.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA. friedman@nidcd.nih.gov.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div class="equal-contrib-block">
|
||
<div class="equal-contrib-explanation" id="short-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">34338890</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC11330641&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11330641/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC11330641
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1007/s00439-021-02319-7&id_type=DOI"
|
||
href="https://doi.org/10.1007/s00439-021-02319-7"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1007/s00439-021-02319-7
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</header>
|
||
|
||
|
||
|
||
<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
|
||
title="Open dialog with full text links"
|
||
ref="linksrc=full_text_links">
|
||
Full text links
|
||
</button><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/34338890/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/34338890/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="abstract" id="abstract">
|
||
|
||
<h2 class="title">
|
||
Abstract
|
||
|
||
</h2>
|
||
|
||
|
||
|
||
<div class="abstract-content selected"
|
||
id="eng-abstract">
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian dysfunction in females who have a 46, XX karyotype. Since the initial clinical description of Perrault syndrome 70 years ago, the phenotype of some subjects may additionally involve developmental delay, intellectual deficit and other neurological disabilities, which can vary in severity in part dependent upon the genetic variants and the gene involved. Here, we review the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, RMND1, TWNK) associated with Perrault syndrome. Variants of these eight genes only account for approximately half of the individuals with clinical features of Perrault syndrome where the molecular genetic base remains under investigation. Additional environmental etiologies and novel Perrault disease-associated genes remain to be identified to account for unresolved cases. We also report a new genetic variant of CLPP, computational structural insight about CLPP and single cell RNAseq data for eight reported Perrault syndrome genes suggesting a common cellular pathophysiology for this disorder. Some unanswered questions are raised to kindle future research about Perrault syndrome.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p class="copyright" id="copyright">
|
||
© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
|
||
</p>
|
||
|
||
|
||
<p class="disclaimer" id="disclaimer">
|
||
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
|
||
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
|
||
</p>
|
||
|
||
<div class="conflict-of-interest" id="conflict-of-interest">
|
||
<h2 class="title">
|
||
Conflict of interest statement
|
||
</h2>
|
||
|
||
<div class="statement">
|
||
|
||
|
||
|
||
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one"><bold>Conflict of interest</bold> None to declare.</p>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="figures" id="figures">
|
||
<h2 class="title">
|
||
Figures
|
||
</h2>
|
||
|
||
<div class="figures-list" id="slides-container"
|
||
itemscope itemtype="http://schema.org/ImageGallery">
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="0"
|
||
data-label-slug="fig-1">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/d92e2d669a5d/nihms-2015695-f0001.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-0"
|
||
role="button"
|
||
data-image-width="1412"
|
||
data-image-height="1950"
|
||
data-image-alt="Fig. 1"
|
||
data-pmc-id="PMC11330641"
|
||
data-figure-id="F1">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-0"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/d79b1129227c/nihms-2015695-f0001.gif"
|
||
alt="Fig. 1" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1412">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1950">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> The eight genes to date… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> The eight genes to date reported to be associated with Perrault syndrome, their… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 1
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">The eight genes to date reported to be associated with Perrault syndrome, their pathogenic variants and locations in the exons or introns of these genes. There are two published deletions of <i>CLPP</i> that are in compound heterozygosity with amino acid substitutions. Deletion 1 was reported to be in trans to p.G162S while deletion 2 was in trans to p.P142L (Theunissen et al. 2016). For <i>HARS2</i>, # indicates variants that are associated with sensorineural hearing loss (Supplementary Table 1 for all reported variants and references). The ## for a variant of <i>HSD17B4</i> indicates an association with premature ovarian failure while D/PS indicates variants associated with <sc>d-</sc>bifunctional protein deficiency/Perrault syndrome Type 1. The p.R663W variant of <i>LARS2</i> was previously associated with Intellectual Disability (Cherot et al. 2018) although the same variant was reported for Perrault syndrome (Tucker et al. 2020). The homozygous N238S variant of RMND1 is associated with a Perrault-like syndrome with renal defects. Interestingly, the same variant in compound heterozygosity with p.Gln189* or c.613G > T is associated with a more severe phenotype that also includes chronic kidney disease, dilated cardiomyopathy, neurological involvement, neonatal lactic acidosis and deafness (Broenen et al. 2019; Gupta et al. 2016; Janer et al. 2015; Ravn et al. 2016; Shayota et al. 2019)</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="1"
|
||
data-label-slug="fig-2">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/dd92d88c95ec/nihms-2015695-f0002.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-1"
|
||
role="button"
|
||
data-image-width="1358"
|
||
data-image-height="1950"
|
||
data-image-alt="Fig. 2"
|
||
data-pmc-id="PMC11330641"
|
||
data-figure-id="F2">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-1"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/efc6349d7d51/nihms-2015695-f0002.gif"
|
||
alt="Fig. 2" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1358">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1950">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Structural models of amino acid… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Structural models of amino acid substitutions of CLPP protein associated with Perrault syndrome.… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Structural models of amino acid substitutions of CLPP protein associated with Perrault syndrome. <b>a</b> Human CLPP X-ray structure without a ligand bound (apo) and with ONC201 bound (CLPP ring1) superimposed on the CLPP-CLPX complex formed by two CLPP rings and one heptamer of CLPX. ONC201 is shown as sticks in mustard color and the CLPP heptamer corresponding to the apo structure. CLPP and CLPX are represented as cartoon where the superimposed apo CLPP (ring 1) is highlighted in a different color per protomer, while the remainder CLPP heptamer (ring2) and the CLPX pentamer (corresponding to the CLPP-CLPX structure) are gray and red colored. The C-alphas of the residues mutated in Perrault syndrome are shown as spheres only in one of the CLPP protomers (green) where the residues in or close to the CLPX binding site are dark-green colored. <b>b</b> Structural comparison of the interacting networks where C86, T135, C144 G162 and Y229 participate in the WT and the corresponding modelled variant. As before, the model of each mutant was structurally superimposed on the CLPP-CLPX complex. The interactions between residues are shown as dashed lines and the residues participating in each interacting network are shown as sticks</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="2"
|
||
data-label-slug="fig-3">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/a5fb3210979a/nihms-2015695-f0003.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-2"
|
||
role="button"
|
||
data-image-width="1688"
|
||
data-image-height="1956"
|
||
data-image-alt="Fig. 3"
|
||
data-pmc-id="PMC11330641"
|
||
data-figure-id="F3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-2"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a70a/11330641/3a9c5f3125b6/nihms-2015695-f0003.gif"
|
||
alt="Fig. 3" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1688">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1956">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Cochlear localization of Perrault syndrome… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Cochlear localization of Perrault syndrome genes using single-cell and single-nucleus RNA-Seq datasets to… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Cochlear localization of Perrault syndrome genes using single-cell and single-nucleus RNA-Seq datasets to pinpoint the possible cell types associated with deafness in this genetically heterogenous disorder. Single-cell RNA-Seq datasets from the P7 mouse organ of Corti (Kolla et al. 2020) and P25–27 mouse spiral ganglion neurons (Shrestha et al. 2018) along with a published P30 adult mouse stria vascularis single-nucleus RNA-seq dataset (Gu et al. 2020) were utilized to identify Perrault gene expression levels in the cell types of the inner ear. Heatmaps display Perrault syndrome-associated genes along the vertical axis and cell types are grouped along the horizontal axis. Expression is in normalized counts scaled from 0 to 1. Higher expression of a gene of interest is indicated by an increasing darker purple color. <b>a</b> Heatmap of Perrault syndrome gene expression among P30 stria vascularis cell types including marginal, intermediate, basal, spindle, root, and Reissner’s membrane cells, as well as macrophages. Note the low level of expression of these genes across the stria vascularis. <b>b</b> Heatmap of Perrault syndrome gene expression among cell types in the P7 organ of Corti including inner hair cells (IHC), outer hair cells (OHC), pillar cells, and Deiters cells. Note the low level of expression of <i>Clpp</i> in these cell types in the organ of Corti. <b>c</b> Heatmap of Perrault syndrome gene expression among type 1 (1A, 1B, and 1C) and type 2 spiral ganglion neurons (SGN). Note that the prominent expression of these Perrault syndrome-associated genes across all SGN types suggests the hypothesis that the hearing loss for variants of the majority of Perrault syndrome genes is related to dysfunctional SGNs</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<!-- Root element of PhotoSwipe. Must have class pswp. -->
|
||
<div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true"
|
||
data-image-gallery-uid="article-figures" aria-label="Figures Dialog">
|
||
<!-- Background of PhotoSwipe.
|
||
It's a separate element as animating opacity is faster than rgba(). -->
|
||
<div class="pswp__bg"></div>
|
||
|
||
<!-- Slides wrapper with overflow:hidden. -->
|
||
<div class="pswp__scroll-wrap">
|
||
<!-- Container that holds slides.
|
||
PhotoSwipe keeps only 3 of them in the DOM to save memory.
|
||
Don't modify these 3 pswp__item elements, data is added later on. -->
|
||
<div class="pswp__container">
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
</div>
|
||
|
||
<!-- Default (PhotoSwipeUI_Default) interface on top of sliding area. Can be changed. -->
|
||
<div class="pswp__ui pswp__ui--hidden">
|
||
<div class="pswp__top-bar">
|
||
<!-- Controls are self-explanatory. Order can be changed. -->
|
||
<div class="pswp__counter"></div>
|
||
<button class="pswp__button pswp__button--close" title="Close (Esc)"></button>
|
||
<button class="pswp__button pswp__button--share" title="Share"></button>
|
||
<button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button>
|
||
<button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>
|
||
|
||
<!-- Preloader demo http://codepen.io/dimsemenov/pen/yyBWoR -->
|
||
<!-- element will get class pswp__preloader--active when preloader is running -->
|
||
<div class="pswp__preloader">
|
||
<div class="pswp__preloader__icn">
|
||
<div class="pswp__preloader__cut">
|
||
<div class="pswp__preloader__donut"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap">
|
||
<div class="pswp__share-tooltip"></div>
|
||
</div>
|
||
|
||
<button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)">
|
||
</button>
|
||
|
||
<button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)">
|
||
</button>
|
||
|
||
<div class="pswp__caption">
|
||
<div class="pswp__caption__center"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-dialog-caption">
|
||
<div class="figure-caption-link-container">
|
||
<a class="figure-caption-link" href="#">See this image and copyright information in PMC</a>
|
||
</div>
|
||
<div class="figure-caption-center"
|
||
data-expand-title="click to show full caption"
|
||
data-collapse-title="click to hide full caption">
|
||
</div>
|
||
<button class="figure-caption-toggle-btn"
|
||
aria-label="show full caption"
|
||
data-expand-text="show full caption"
|
||
data-collapse-text="hide full caption">
|
||
<!-- Dynamic text -->
|
||
</button>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="similar-articles" id="similar">
|
||
<h2 class="title">
|
||
Similar articles
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="similar-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/26970254/"
|
||
ref="article_id=26970254&linksrc=similar_articles_link&ordinalpos=1"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="26970254"
|
||
data-ga-label="">
|
||
|
||
Expanding the genotypic spectrum of Perrault syndrome.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Demain LA, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Clin Genet. 2017.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">26970254</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/29205794/"
|
||
ref="article_id=29205794&linksrc=similar_articles_link&ordinalpos=2"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="29205794"
|
||
data-ga-label="">
|
||
|
||
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Kosaki R, Horikawa R, Fujii E, Kosaki K.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Kosaki R, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2018 Feb;176(2):404-408. doi: 10.1002/ajmg.a.38552. Epub 2017 Dec 3.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Am J Med Genet A. 2018.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">29205794</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/32399598/"
|
||
ref="article_id=32399598&linksrc=similar_articles_link&ordinalpos=3"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="32399598"
|
||
data-ga-label="">
|
||
|
||
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Tucker EJ, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Hum Genet. 2020.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">32399598</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/32423379/"
|
||
ref="article_id=32423379&linksrc=similar_articles_link&ordinalpos=4"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="32423379"
|
||
data-ga-label="">
|
||
|
||
LARS2-Perrault syndrome: a new case report and literature review.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Carminho-Rodrigues MT, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">BMC Med Genet. 2020.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">32423379</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/27650058/"
|
||
ref="article_id=27650058&linksrc=similar_articles_link&ordinalpos=5"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="27650058"
|
||
data-ga-label="">
|
||
|
||
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Lerat J, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Hum Mutat. 2016.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">27650058</span></span>
|
||
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
|
||
<a
|
||
class="show-all-linked-articles"
|
||
data-href="/?linkname=pubmed_pubmed&from_uid=34338890"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="show_all"
|
||
>
|
||
See all similar articles
|
||
</a>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="citedby-articles" id="citedby">
|
||
<h2 class="title">
|
||
Cited by
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="citedby-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/37033446/"
|
||
ref="article_id=37033446&linksrc=citedby_articles_link&ordinalpos=1"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="37033446"
|
||
data-ga-label="">
|
||
|
||
The prognostic role and metabolic function of GGPS1 in oral squamous cell carcinoma.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Huang K, Han L, Xu H, Xu R, Guo H, Wang H, Xu Z.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Huang K, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Front Mol Biosci. 2023 Mar 24;10:1109403. doi: 10.3389/fmolb.2023.1109403. eCollection 2023.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Front Mol Biosci. 2023.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">37033446</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/39371131/"
|
||
ref="article_id=39371131&linksrc=citedby_articles_link&ordinalpos=2"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="39371131"
|
||
data-ga-label="">
|
||
|
||
Biallelic variants in <em>DAP3</em> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Smith TB, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">medRxiv. 2024.</span>
|
||
|
||
|
||
|
||
<span class="docsum-comments-correction">
|
||
<span class="correction-label citation-part">Update in: </span>
|
||
<a class="docsum-comments-link"
|
||
href="/39701103/"
|
||
ref="article_id=39371131&linksrc=comments_link"
|
||
data-ga-category="comment_correction" data-ga-action="docsum_link"
|
||
data-ga-label="linked-update">Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007.</a>
|
||
</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">39371131</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
<span class="correction-label spaced-citation-item citation-part">Updated.</span>
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Preprint.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/37584739/"
|
||
ref="article_id=37584739&linksrc=citedby_articles_link&ordinalpos=3"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="37584739"
|
||
data-ga-label="">
|
||
|
||
The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Rioux AV, Bergeron NA, Riopel J, Marcoux N, Thériault C, Gould PV, Garneau AP, Isenring P.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Rioux AV, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">J Mol Med (Berl). 2023 Oct;101(10):1229-1236. doi: 10.1007/s00109-023-02356-x. Epub 2023 Aug 16.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">J Mol Med (Berl). 2023.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">37584739</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/39483604/"
|
||
ref="article_id=39483604&linksrc=citedby_articles_link&ordinalpos=4"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="39483604"
|
||
data-ga-label="">
|
||
|
||
The Perrault Syndrome Mystery: A Case Report on Its Diagnosis in a 26-Year-Old Female.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Iqbal M, Jamal A, Ahmed RA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Iqbal M, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Cureus. 2024 Oct 1;16(10):e70648. doi: 10.7759/cureus.70648. eCollection 2024 Oct.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Cureus. 2024.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">39483604</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/38585549/"
|
||
ref="article_id=38585549&linksrc=citedby_articles_link&ordinalpos=5"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="38585549"
|
||
data-ga-label="">
|
||
|
||
A Homozygous Missense Variant in <em>HSD17B4</em> Identified in Two Different Families.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Özkan Kart P, Sahin Y, Yildiz N, Cebi AH, Esenulku G, Cansu A.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Özkan Kart P, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Mol Syndromol. 2024 Mar;15(2):143-148. doi: 10.1159/000534785. Epub 2023 Nov 14.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Mol Syndromol. 2024.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">38585549</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
|
||
<a
|
||
class="show-all-linked-articles"
|
||
data-href="/?linkname=pubmed_pubmed_citedin&from_uid=34338890"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="show_all"
|
||
>
|
||
See all "Cited by" articles
|
||
</a>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="references" id="references">
|
||
<h2 class="title">
|
||
References
|
||
</h2>
|
||
<div id='top-references-list' class="references-lists-container">
|
||
|
||
<div class="refs-list">
|
||
|
||
|
||
|
||
|
||
|
||
<ol id="top-references-list-1" class="references-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Bae JW et al. (2019) Ras-related proteins (Rab) are key proteins related to male fertility following a unique activation mechanism. Reprod Biol 19:356–362. 10.1016/j.repbio.2019.10.001
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://doi.org/10.1016/j.repbio.2019.10.001"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="10.1016/j.repbio.2019.10.001"
|
||
>
|
||
DOI
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/31606348/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="31606348"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Baes M, Huyghe S, Carmeliet P, Declercq PE, Collen D, Mannaerts GP, Van Veldhoven PP (2000) Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. J Biol Chem 275:16329–16336. 10.1074/jbc.M001994200
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://doi.org/10.1074/jbc.m001994200"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="10.1074/jbc.M001994200"
|
||
>
|
||
DOI
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/10748062/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="10748062"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Ben-Yosef T et al. (2003) Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 12:2049–2061. 10.1093/hmg/ddg210
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://doi.org/10.1093/hmg/ddg210"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="10.1093/hmg/ddg210"
|
||
>
|
||
DOI
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/12913076/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="12913076"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Bonner ER, Waszak SM, Grotzer MA, Mueller S, Nazarian J (2020) Mechanisms of imipridones in targeting mitochondrial metabolism in cancer cells. Neuro Oncol. 10.1093/neuonc/noaa283
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://doi.org/10.1093/neuonc/noaa283"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="10.1093/neuonc/noaa283"
|
||
>
|
||
DOI
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC8041338/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC8041338"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/33336683/"
|
||
ref="linksrc=references_link&ordinalpos=3"
|
||
data-ga-category="reference"
|
||
data-ga-action="33336683"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Brodie EJ, Zhan H, Saiyed T, Truscott KN, Dougan DA (2018) Perrault syndrome type 3 caused by diverse molecular defects in CLPP. Sci Rep 8:12862. 10.1038/s41598-018-30311-1
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://doi.org/10.1038/s41598-018-30311-1"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="10.1038/s41598-018-30311-1"
|
||
>
|
||
DOI
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC6110781/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC6110781"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/30150665/"
|
||
ref="linksrc=references_link&ordinalpos=3"
|
||
data-ga-category="reference"
|
||
data-ga-action="30150665"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
|
||
</ol>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
<button
|
||
class="show-all"
|
||
ref="linksrc=show_all_references_link"
|
||
aria-controls="top-references-list-1"
|
||
|
||
data-next-page-url="/34338890/references/"
|
||
data-ga-category="reference"
|
||
data-ga-action="show_more"
|
||
>
|
||
Show all 81 references
|
||
</button>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="publication-types" class="publication-types keywords-section">
|
||
<h2 class="title">
|
||
Publication types
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Review"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-publication-types-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Review
|
||
</button><div id="keyword-actions-publication-types-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Review"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Review%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Review%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Review"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="pub_type"
|
||
data-ga-label="Review">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Review"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="pub_type_link"
|
||
data-ga-label="Review">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Review"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Review"[pt]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="mesh-terms" class="mesh-terms keywords-section">
|
||
<h2 class="title">
|
||
MeSH terms
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Amino Acyl-tRNA Synthetases* / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Amino Acyl-tRNA Synthetases* / genetics
|
||
</button><div id="keyword-actions-mesh-terms-major-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Amino Acyl-tRNA Synthetases* / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Amino+Acyl-tRNA+Synthetases%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Amino+Acyl-tRNA+Synthetases%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Amino Acyl-tRNA Synthetases/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Amino Acyl-tRNA Synthetases* / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Amino+Acyl-tRNA+Synthetases"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Amino Acyl-tRNA Synthetases* / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Amino Acyl-tRNA Synthetases/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Amino Acyl-tRNA Synthetases/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Cell Cycle Proteins / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Cell Cycle Proteins / genetics
|
||
</button><div id="keyword-actions-mesh-terms-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Cell Cycle Proteins / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Cell+Cycle+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Cell+Cycle+Proteins%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Cell Cycle Proteins/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Cell Cycle Proteins / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cell+Cycle+Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Cell Cycle Proteins / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Cell Cycle Proteins/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Cell Cycle Proteins/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Female"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Female
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Female">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Female">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Female"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Gonadal Dysgenesis, 46,XX* / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Gonadal Dysgenesis, 46,XX* / genetics
|
||
</button><div id="keyword-actions-mesh-terms-major-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Gonadal Dysgenesis, 46,XX* / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Gonadal+Dysgenesis%2C+46%2CXX%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Gonadal+Dysgenesis%2C+46%2CXX%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Gonadal Dysgenesis, 46,XX/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Gonadal Dysgenesis, 46,XX* / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Gonadal+Dysgenesis%2C+46%2CXX"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Gonadal Dysgenesis, 46,XX* / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Gonadal Dysgenesis, 46,XX/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Gonadal Dysgenesis, 46,XX/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Hearing Loss, Sensorineural* / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Hearing Loss, Sensorineural* / genetics
|
||
</button><div id="keyword-actions-mesh-terms-major-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Hearing Loss, Sensorineural* / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Hearing Loss, Sensorineural/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Hearing Loss, Sensorineural* / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Hearing+Loss%2C+Sensorineural"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Hearing Loss, Sensorineural* / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Hearing Loss, Sensorineural/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Hearing Loss, Sensorineural/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Humans">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Male"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Male">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Male">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Male"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Mutation"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation
|
||
</button><div id="keyword-actions-mesh-terms-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutation">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Pedigree"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Pedigree
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Pedigree"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Pedigree">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pedigree"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Pedigree">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Pedigree"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Cell Cycle Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Cell Cycle Proteins
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Cell Cycle Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Cell+Cycle+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Cell+Cycle+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Cell Cycle Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Cell Cycle Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Cell+Cycle+Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Cell Cycle Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Cell Cycle Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Cell Cycle Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword RMND1 protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
RMND1 protein, human
|
||
</button><div id="keyword-actions-substances-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword RMND1 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22RMND1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22RMND1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="RMND1 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="RMND1 protein, human">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22RMND1+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="RMND1 protein, human">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""RMND1 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""RMND1 protein, human"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Amino Acyl-tRNA Synthetases"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Amino Acyl-tRNA Synthetases
|
||
</button><div id="keyword-actions-substances-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Amino Acyl-tRNA Synthetases"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Amino+Acyl-tRNA+Synthetases%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Amino+Acyl-tRNA+Synthetases%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Amino Acyl-tRNA Synthetases"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Amino Acyl-tRNA Synthetases">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Amino+Acyl-tRNA+Synthetases%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Amino Acyl-tRNA Synthetases">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Amino Acyl-tRNA Synthetases"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Amino Acyl-tRNA Synthetases"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword LARS2 protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
LARS2 protein, human
|
||
</button><div id="keyword-actions-substances-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword LARS2 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22LARS2+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22LARS2+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="LARS2 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="LARS2 protein, human">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22LARS2+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="LARS2 protein, human">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""LARS2 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""LARS2 protein, human"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
|
||
<h2 class="title">
|
||
Supplementary concepts
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Gonadal dysgenesis XX type deafness"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-supplementary-concepts-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Gonadal dysgenesis XX type deafness
|
||
</button><div id="keyword-actions-supplementary-concepts-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Gonadal dysgenesis XX type deafness"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Gonadal+dysgenesis+XX+type+deafness%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Gonadal+dysgenesis+XX+type+deafness%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Gonadal dysgenesis XX type deafness"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="supplementary_concept"
|
||
data-ga-label="Gonadal dysgenesis XX type deafness">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Gonadal+dysgenesis+XX+type+deafness"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="supplementary_concept_link"
|
||
data-ga-label="Gonadal dysgenesis XX type deafness">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Gonadal dysgenesis XX type deafness"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Gonadal dysgenesis XX type deafness"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="related-links" class="related-links">
|
||
<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
||
<ul class="related-links-list"><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=34338890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=34338890&ordinalpos=1&linkpos=1">
|
||
MedGen
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="grants" class="grants">
|
||
<h2 class="title">
|
||
Grants and funding
|
||
</h2>
|
||
<div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a
|
||
title="All articles for grant DC000039/DC/NIDCD NIH HHS/United States"
|
||
href="/?term=DC000039%2FDC%2FNIDCD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=grant_link"
|
||
data-ga-category="search"
|
||
data-ga-action="grant"
|
||
data-ga-label="DC000039"
|
||
>
|
||
DC000039/DC/NIDCD NIH HHS/United States
|
||
</a></li><li class="grant-item"><a
|
||
title="All articles for grant T32 DC000039/DC/NIDCD NIH HHS/United States"
|
||
href="/?term=T32+DC000039%2FDC%2FNIDCD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=grant_link"
|
||
data-ga-category="search"
|
||
data-ga-action="grant"
|
||
data-ga-label="T32 DC000039"
|
||
>
|
||
T32 DC000039/DC/NIDCD NIH HHS/United States
|
||
</a></li><li class="grant-item"><a
|
||
title="All articles for grant GN2494/Action Medical Research"
|
||
href="/?term=GN2494%2FAction+Medical+Research%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=grant_link"
|
||
data-ga-category="search"
|
||
data-ga-action="grant"
|
||
data-ga-label="GN2494"
|
||
>
|
||
GN2494/Action Medical Research
|
||
</a></li><li class="grant-item"><a
|
||
title="All articles for grant DC000088/DC/NIDCD NIH HHS/United States"
|
||
href="/?term=DC000088%2FDC%2FNIDCD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=grant_link"
|
||
data-ga-category="search"
|
||
data-ga-action="grant"
|
||
data-ga-label="DC000088"
|
||
>
|
||
DC000088/DC/NIDCD NIH HHS/United States
|
||
</a></li><li class="grant-item"><a
|
||
title="All articles for grant Z01 DC000039/ImNIH/Intramural NIH HHS/United States"
|
||
href="/?term=Z01+DC000039%2FImNIH%2FIntramural+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=grant_link"
|
||
data-ga-category="search"
|
||
data-ga-action="grant"
|
||
data-ga-label="Z01 DC000039"
|
||
>
|
||
Z01 DC000039/ImNIH/Intramural NIH HHS/United States
|
||
</a></li></ul></div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
|
||
<h2 class="title">
|
||
LinkOut - more resources
|
||
</h2>
|
||
|
||
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/34338890/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3494&uid=34338890&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=7613873"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="PubMed Central"
|
||
>
|
||
PubMed Central
|
||
</a></li><li><a
|
||
href="https://dx.doi.org/10.1007/s00439-021-02319-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3055&uid=34338890&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=7613873"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Springer"
|
||
>
|
||
Springer
|
||
</a></li></ul></li><li><h3 class="linkout-category">Miscellaneous</h3><ul class="linkout-category-links"><li><a
|
||
href="https://assays.cancer.gov/CPTAC-389"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=8855&uid=34338890&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=7613873"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Miscellaneous"
|
||
data-ga-label="NCI CPTAC Assay Portal"
|
||
>
|
||
NCI CPTAC Assay Portal
|
||
</a></li></ul></li></ul>
|
||
</div>
|
||
|
||
|
||
</main>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
|
||
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
|
||
<strong class="title">Full text links</strong>
|
||
<button class="close-overlay" tabindex="3">[x]</button>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://dx.doi.org/10.1007/s00439-021-02319-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3055&itool=Abstract-def&log$=linkouticon&uid=34338890&db=pubmed&nlmid=7613873"
|
||
title="See full text options at Springer"
|
||
tabindex="1"
|
||
data-ga-category="full_text"
|
||
data-ga-action="Springer"
|
||
data-ga-label="34338890"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
|
||
|
||
Springer
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/34338890/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=34338890&db=pubmed&nlmid=7613873"
|
||
title="Free full text at PubMed Central"
|
||
tabindex="2"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="34338890"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Citation Dialog">
|
||
<div class="dialog citation-dialog">
|
||
<button class="close-overlay" tabindex="1">[x]</button>
|
||
<div class="title">Cite</div>
|
||
<div class="citation-text-block">
|
||
<div class="citation-text"></div>
|
||
<div class="citation-actions">
|
||
<button
|
||
class="copy-button dialog-focus"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="copy"
|
||
tabindex="2">
|
||
Copy
|
||
</button>
|
||
|
||
<form method="post">
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="PCP2pmeB8stMFhHUujMTtL55JGv1RzXu6pz72cHXI3ggzINK7CpVXTBJhKddKavO">
|
||
<button type="submit"
|
||
class="export-button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="download"
|
||
title="Download a file for external citation management software"
|
||
tabindex="3">
|
||
<span class="download-title">Download .nbib</span>
|
||
<span class="download-title-mobile">.nbib</span>
|
||
</button>
|
||
</form>
|
||
|
||
|
||
|
||
|
||
<div class="citation-style-selector-wrapper">
|
||
<label class="selector-label">Format:</label>
|
||
<select aria-label="Format" class="citation-style-selector" tabindex="4">
|
||
|
||
<option data-style-url-name="ama"
|
||
value="AMA"
|
||
>
|
||
AMA
|
||
</option>
|
||
|
||
<option data-style-url-name="apa"
|
||
value="APA"
|
||
>
|
||
APA
|
||
</option>
|
||
|
||
<option data-style-url-name="mla"
|
||
value="MLA"
|
||
>
|
||
MLA
|
||
</option>
|
||
|
||
<option data-style-url-name="nlm"
|
||
value="NLM"
|
||
selected="selected">
|
||
NLM
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
|
||
<div id="more-actions-dialog" class="dialog more-actions-dialog">
|
||
<strong class="title">Send To</strong>
|
||
<ul class="more-actions-links">
|
||
|
||
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
|
||
|
||
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
|
||
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
|
||
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F%23open-bibliography-panel">My Bibliography</a></li>
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F%23open-collections-panel">Collections</a></li>
|
||
|
||
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
|
||
</ul>
|
||
<button class="close-overlay">[x]</button>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="ncbi-footer">
|
||
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
|
||
<div class="usa-grid">
|
||
<p class="literature-footer-text">NCBI Literature Resources</p>
|
||
<p class="literature-footer-text">
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
|
||
</p>
|
||
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
|
||
</div>
|
||
</div>
|
||
<!-- ========== BEGIN FOOTER ========== -->
|
||
<footer>
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008"
|
||
d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z"
|
||
fill="#5B616B"/>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11"
|
||
d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin"
|
||
href="https://www.linkedin.com/company/ncbinlm"
|
||
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11"
|
||
d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11"
|
||
d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12"
|
||
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
|
||
target="_blank" rel="noopener noreferrer">
|
||
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="38" height="38" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg></a>
|
||
</li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
|
||
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
|
||
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st10 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st110 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>SM-Facebook</title>
|
||
<g>
|
||
<g>
|
||
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
|
||
v67.5H135v-67.5h21.7L159,99.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
|
||
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
|
||
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
|
||
style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<title>SM-Youtube</title>
|
||
<style type="text/css">
|
||
.st4 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
|
||
.st5 {
|
||
fill: #FFFFFF;
|
||
}
|
||
</style>
|
||
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
|
||
<g transform="translate(0,-952.36218)">
|
||
<path class="st5"
|
||
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
|
||
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
|
||
</g>
|
||
</svg></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br>
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
|
||
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
|
||
class="text-white">FOIA</a><br>
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white"
|
||
href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a
|
||
class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
</footer>
|
||
<!-- ========== END FOOTER ========== -->
|
||
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
|
||
|
||
<script type="text/javascript">
|
||
var nwds_version = "1.2.3";
|
||
|
||
var meta_nwds_ver = document.createElement('meta');
|
||
meta_nwds_ver.name = 'ncbi_nwds_ver';
|
||
meta_nwds_ver.content = nwds_version;
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
|
||
|
||
var meta_nwds = document.createElement('meta');
|
||
meta_nwds.name = 'ncbi_nwds';
|
||
meta_nwds.content = 'yes';
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
|
||
|
||
var alertsUrl = "/core/alerts/alerts.js";
|
||
if (typeof ncbiBaseUrl !== 'undefined') {
|
||
alertsUrl = ncbiBaseUrl + alertsUrl;
|
||
}
|
||
</script>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<!-- jQuery with plugins -->
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
|
||
|
||
|
||
|
||
|
||
<!-- Project base scripts -->
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.basePage.init({
|
||
userInfo: {
|
||
isLoggedIn: false,
|
||
username: "",
|
||
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F34338890%2F",
|
||
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/34338890/"
|
||
},
|
||
baseUrl: 'https://www.ncbi.nlm.nih.gov',
|
||
noSessionCookieName: "pm-ns",
|
||
searchIdCookieName: "pm-sid",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
isOnSearchPageCookieName: "pm-iosp",
|
||
backToSearchCookieName: "pm-btsl",
|
||
clinicalSeeAllCookieName: "pm-csa",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
userShareRequestFailed: "",
|
||
noSharedSettings: "myncbi_no_shared_settings",
|
||
noSharedAccount: "myncbi_no_shared_account"
|
||
});
|
||
</script>
|
||
|
||
<script type="module">
|
||
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
|
||
|
||
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
|
||
galert(['body > *:last-child']);
|
||
dismissableNCBIAlert();
|
||
}).fail(function() {
|
||
});
|
||
</script>
|
||
|
||
|
||
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
|
||
|
||
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.articlePage.init({
|
||
baseSuggestionsUrl: "/suggestions/",
|
||
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
|
||
clipboardAPIRoot: "/ajax/clipboard/",
|
||
clipboardNextPageUrl: "/clipboard-next-page/",
|
||
searchIdCookieName: "pm-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
backToSearchCookieName: "pm-btsl",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
longTermPrefix: "longquery",
|
||
adjNavURLPath: "/34338890/adj-nav/",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
articlePageUrl: "/34338890/",
|
||
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
|
||
termHighlightColor: "",
|
||
highlightedTokens: "",
|
||
citeFormatPreferenceCookieName: "pm-cf"
|
||
});
|
||
</script>
|
||
|
||
</body>
|
||
</html> |