nih-gov/pubmed.ncbi.nlm.nih.gov/25920555/index.html

5256 lines
No EOL
221 KiB
HTML
Raw Permalink Blame History

This file contains ambiguous Unicode characters

This file contains Unicode characters that might be confused with other characters. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<!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">
<title>Joubert syndrome: genotyping a Northern European patient cohort - 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="CFA10001F781511500002C6C228609FC.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="25920555" />
<meta name="ncbi_uid" content="25920555" />
<meta name="log_displayeduids" content="25920555" />
<meta name="log_source_db" content="pubmed,pmc" />
<meta name="log_icons_present" content="true" />
<meta name="ncbi_search_id" content="Fja7GlafjVMREV6jvl-y6Q:83f903ea730c0da80f3a98043a63e0ed" />
<meta name="ncbi_adj_nav_search_id" content="FCOt7y2bdOoYEx4cSXIfaQ:c09efe786de69b3f9ea0b4d33c89bd07" />
<!-- Social meta tags for unfurling urls -->
<meta name="description" content="Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with &gt;20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We develo …"><meta name="keywords" content="pmid:25920555, PMC4717206, doi:10.1038/ejhg.2015.84, Research Support, Non-U.S. Gov&#x27;t, Hester Y Kroes, Glen R Monroe, Gijs van Haaften, Abnormalities, Multiple / diagnosis*, Abnormalities, Multiple / epidemiology, Abnormalities, Multiple / genetics*, Adaptor Proteins, Signal Transducing / genetics, Adaptor Proteins, Vesicular Transport, Adolescent, Cerebellum / abnormalities*, Child, Child, Preschool, Cytoskeletal Proteins, Eye Abnormalities / diagnosis*, Eye Abnormalities / epidemiology, Eye Abnormalities / genetics*, Female, Genetic Counseling*, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Kidney Diseases, Cystic / diagnosis*, Kidney Diseases, Cystic / epidemiology, Kidney Diseases, Cystic / genetics*, Male, Membrane Proteins / genetics, Pathology, Molecular*, Proteins / genetics, Retina / abnormalities*, Young Adult, 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="Joubert syndrome: genotyping a Northern European patient cohort - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/25920555/"><meta property="og:description" content="Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with &gt;20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We develo …"><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="Joubert syndrome: genotyping a Northern European patient cohort - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/25920555/"><meta name="twitter:description" content="Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with &gt;20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We develo …"><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="Joubert syndrome: genotyping a Northern European patient cohort">
<meta name="citation_authors" content="Kroes HY;Monroe GR;van der Zwaag B;Duran KJ;de Kovel CG;van Roosmalen MJ;Harakalova M;Nijman IJ;Kloosterman WP;Giles RH;Knoers NV;van Haaften G;">
<meta name="citation_date" content="2016 Feb">
<meta name="citation_publisher" content="Eur J Hum Genet">
<meta name="citation_journal_title" content="European journal of human genetics : EJHG">
<meta name="citation_pmid" content="25920555">
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/25920555/">
<meta name="citation_volume" content="24">
<meta name="citation_issue" content="2">
<meta name="citation_doi" content="10.1038/ejhg.2015.84">
<meta name="citation_issn" content="1476-5438">
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/25920555/" />
</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 its official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure youre 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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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%2F25920555%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%2F25920555%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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
</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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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: 25920555 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 25920555"/>
<input type="hidden" name="email-subject-hash" value="1f981b482d16cdea4e7e5d7edc4f29d9214b0f8d97c2f7d8c99f2bbf84c40a15"/>
</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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="25920555">
<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://doi.org/10.1038/ejhg.2015.84"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3094&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25920555&amp;db=pubmed&amp;nlmid=9302235"
title="See full text options at Nature Publishing Group"
data-ga-category="full_text"
data-ga-action="Nature Publishing Group"
data-ga-label="25920555"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nature.com-static-images-logos-nature-portfolio-120.png" alt="Nature Publishing Group full text link"><span class="text">
Nature Publishing Group
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25920555/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25920555&amp;db=pubmed&amp;nlmid=9302235"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="25920555"
><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="/25920555/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/25920555/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="25920555" 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%2F25920555%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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj"><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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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=Joubert%20syndrome%3A%20genotyping%20a%20Northern%20European%20patient%20cohort%20https%3A//pubmed.ncbi.nlm.nih.gov/25920555/"
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/25920555/"
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/25920555/"
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 &amp; authors section"
data-ga-category="page_nav"
data-ga-action="heading">
Title &amp; 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="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="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 &amp; authors</option>
<option value="abstract">Abstract</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="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="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="European journal of human genetics : EJHG"
tabindex="0"
aria-controls="full-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal European journal of human genetics : EJHG"
data-pinger-ignore>
Eur J Hum Genet
</button><div id="full-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal European journal of human genetics : EJHG"><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=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Eur J Hum Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Eur J 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=%22Eur+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Eur J 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='"Eur J Hum Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Eur J Hum Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2016 Feb;24(2):214-20.</span>
</div>
<span class="citation-doi">
doi: 10.1038/ejhg.2015.84.
</span>
<span class="secondary-date">
Epub 2015 Apr 29.
</span>
</div>
<h1 class="heading-title">
Joubert syndrome: genotyping a Northern European patient cohort
</h1>
<div class="inline-authors">
<div class="authors">
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Kroes+HY&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hester Y Kroes">Hester Y Kroes</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Monroe+GR&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Glen R Monroe">Glen R Monroe</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+der+Zwaag+B&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Bert van der Zwaag">Bert van der Zwaag</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Duran+KJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Karen J Duran">Karen J Duran</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=de+Kovel+CG&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Carolien G de Kovel">Carolien G de Kovel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Roosmalen+MJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Mark J van Roosmalen">Mark J van Roosmalen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Harakalova+M&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Magdalena Harakalova">Magdalena Harakalova</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nijman+IJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Ies J Nijman">Ies J Nijman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kloosterman+WP&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Wigard P Kloosterman">Wigard P Kloosterman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Giles+RH&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Rachel H Giles">Rachel H Giles</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Knoers+NV&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nine V A M Knoers">Nine V A M Knoers</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Haaften+G&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Gijs van Haaften">Gijs van Haaften</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</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="/25920555/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> Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.</li>
</ul>
</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">25920555</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&amp;article_id=PMC4717206&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4717206/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC4717206
</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&amp;article_id=10.1038/ejhg.2015.84&amp;id_type=DOI"
href="https://doi.org/10.1038/ejhg.2015.84"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1038/ejhg.2015.84
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
<div class="short-view" id="short-view-heading">
<h1 class="heading-title">
Joubert syndrome: genotyping a Northern European patient cohort
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">Hester Y Kroes</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
Eur J Hum Genet<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2016 Feb</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="/25920555/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="European journal of human genetics : EJHG"
tabindex="0"
aria-controls="short-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal European journal of human genetics : EJHG"
data-pinger-ignore>
Eur J Hum Genet
</button><div id="short-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal European journal of human genetics : EJHG"><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=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Eur J Hum Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Eur J 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=%22Eur+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Eur J 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='"Eur J Hum Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Eur J Hum Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2016 Feb;24(2):214-20.</span>
</div>
<span class="citation-doi">
doi: 10.1038/ejhg.2015.84.
</span>
<span class="secondary-date">
Epub 2015 Apr 29.
</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=Kroes+HY&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hester Y Kroes">Hester Y Kroes</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Monroe+GR&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Glen R Monroe">Glen R Monroe</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+der+Zwaag+B&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Bert van der Zwaag">Bert van der Zwaag</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Duran+KJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Karen J Duran">Karen J Duran</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=de+Kovel+CG&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Carolien G de Kovel">Carolien G de Kovel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Roosmalen+MJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Mark J van Roosmalen">Mark J van Roosmalen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Harakalova+M&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Magdalena Harakalova">Magdalena Harakalova</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nijman+IJ&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Ies J Nijman">Ies J Nijman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kloosterman+WP&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Wigard P Kloosterman">Wigard P Kloosterman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Giles+RH&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Rachel H Giles">Rachel H Giles</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Knoers+NV&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nine V A M Knoers">Nine V A M Knoers</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Haaften+G&amp;cauthor_id=25920555"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Gijs van Haaften">Gijs van Haaften</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</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> Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.</li>
</ul>
</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">25920555</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&amp;article_id=PMC4717206&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4717206/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC4717206
</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&amp;article_id=10.1038/ejhg.2015.84&amp;id_type=DOI"
href="https://doi.org/10.1038/ejhg.2015.84"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1038/ejhg.2015.84
</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="/25920555/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/25920555/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>
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with &gt;20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.
</p>
</div>
</div>
<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="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="/29146704/"
ref="article_id=29146704&amp;linksrc=similar_articles_link&amp;ordinalpos=1"
data-ga-category="similar_article"
data-ga-action="29146704"
data-ga-label="">
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.</span>
<span class="docsum-authors short-authors">Fleming LR, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.</span>
<span class="docsum-journal-citation short-journal-citation">Clin J Am Soc Nephrol. 2017.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29146704</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="/32139166/"
ref="article_id=32139166&amp;linksrc=similar_articles_link&amp;ordinalpos=2"
data-ga-category="similar_article"
data-ga-action="32139166"
data-ga-label="">
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Radha Rama Devi A, Naushad SM, Lingappa L.</span>
<span class="docsum-authors short-authors">Radha Rama Devi A, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4.</span>
<span class="docsum-journal-citation short-journal-citation">Pediatr Neurol. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">32139166</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/29605658/"
ref="article_id=29605658&amp;linksrc=similar_articles_link&amp;ordinalpos=3"
data-ga-category="similar_article"
data-ga-action="29605658"
data-ga-label="">
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.</span>
<span class="docsum-authors short-authors">Bonnard C, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.</span>
<span class="docsum-journal-citation short-journal-citation">Eur J Med Genet. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29605658</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/27377014/"
ref="article_id=27377014&amp;linksrc=similar_articles_link&amp;ordinalpos=4"
data-ga-category="similar_article"
data-ga-action="27377014"
data-ga-label="">
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.</span>
<span class="docsum-authors short-authors">Bader I, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1.</span>
<span class="docsum-journal-citation short-journal-citation">Eur J Med Genet. 2016.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">27377014</span></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="/25118024/"
ref="article_id=25118024&amp;linksrc=similar_articles_link&amp;ordinalpos=5"
data-ga-category="similar_article"
data-ga-action="25118024"
data-ga-label="">
Tectonic gene mutations in patients with Joubert syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.</span>
<span class="docsum-authors short-authors">Huppke P, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13.</span>
<span class="docsum-journal-citation short-journal-citation">Eur J Hum Genet. 2015.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">25118024</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>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed&from_uid=25920555"
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="/30518138/"
ref="article_id=30518138&amp;linksrc=citedby_articles_link&amp;ordinalpos=1"
data-ga-category="cited_by"
data-ga-action="30518138"
data-ga-label="">
Review of Ocular Manifestations of Joubert Syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, Sun Y.</span>
<span class="docsum-authors short-authors">Wang SF, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Genes (Basel). 2018 Dec 4;9(12):605. doi: 10.3390/genes9120605.</span>
<span class="docsum-journal-citation short-journal-citation">Genes (Basel). 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">30518138</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="/34912761/"
ref="article_id=34912761&amp;linksrc=citedby_articles_link&amp;ordinalpos=2"
data-ga-category="cited_by"
data-ga-action="34912761"
data-ga-label="">
A Novel Homozygous Variant of <em>TMEM231</em> in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Wang T, Liu YX, Luo FM, Dong Y, Li YL, Fan LL.</span>
<span class="docsum-authors short-authors">Wang T, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Front Pediatr. 2021 Nov 29;9:774575. doi: 10.3389/fped.2021.774575. eCollection 2021.</span>
<span class="docsum-journal-citation short-journal-citation">Front Pediatr. 2021.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">34912761</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="/37090835/"
ref="article_id=37090835&amp;linksrc=citedby_articles_link&amp;ordinalpos=3"
data-ga-category="cited_by"
data-ga-action="37090835"
data-ga-label="">
Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Petrović D, Čulić V, Swinderek-Alsayed Z.</span>
<span class="docsum-authors short-authors">Petrović D, et al.</span>
<span class="docsum-journal-citation full-journal-citation">J Pediatr Genet. 2021 Jan 6;12(2):167-170. doi: 10.1055/s-0040-1721826. eCollection 2023 Jun.</span>
<span class="docsum-journal-citation short-journal-citation">J Pediatr Genet. 2021.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">37090835</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="/32753732/"
ref="article_id=32753732&amp;linksrc=citedby_articles_link&amp;ordinalpos=4"
data-ga-category="cited_by"
data-ga-action="32753732"
data-ga-label="">
Targeting the photoreceptor cilium for the treatment of retinal diseases.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Ran J, Zhou J.</span>
<span class="docsum-authors short-authors">Ran J, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Acta Pharmacol Sin. 2020 Nov;41(11):1410-1415. doi: 10.1038/s41401-020-0486-3. Epub 2020 Aug 4.</span>
<span class="docsum-journal-citation short-journal-citation">Acta Pharmacol Sin. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">32753732</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="/30581852/"
ref="article_id=30581852&amp;linksrc=citedby_articles_link&amp;ordinalpos=5"
data-ga-category="cited_by"
data-ga-action="30581852"
data-ga-label="">
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in <em>OFD1</em>.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L.</span>
<span class="docsum-authors short-authors">Linpeng S, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Biomed Res Int. 2018 Nov 15;2018:4032543. doi: 10.1155/2018/4032543. eCollection 2018.</span>
<span class="docsum-journal-citation short-journal-citation">Biomed Res Int. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">30581852</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=25920555"
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">
1Maria BL, Quisling RG, Rosainz LC et al: Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999; 14: 368376.
-
<a
class="reference-link"
href="/10385844/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="10385844"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
2Parisi M, Glass I: Joubert Syndrome and related disorders. Gene Rev 1993, rev. 2013.
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
3Doherty D: Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 2009; 16: 143154.
-
<a
class="reference-link"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2804071/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="PMC2804071"
>
PMC
</a>
-
<a
class="reference-link"
href="/19778711/"
ref="linksrc=references_link&amp;ordinalpos=2"
data-ga-category="reference"
data-ga-action="19778711"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
4Valente EM, Brancati F, Dallapiccola B: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008; 51: 123.
-
<a
class="reference-link"
href="/18164675/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="18164675"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
5Gherman A, Davis EE, Katsanis N: The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006; 38: 961962.
-
<a
class="reference-link"
href="/16940995/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="16940995"
>
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="/25920555/references/"
data-ga-category="reference"
data-ga-action="show_more"
>
Show all 36 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 Research Support, Non-U.S. Gov&#x27;t"
tabindex="0"
aria-controls="keyword-actions-publication-types-0"
aria-expanded="false"
data-pinger-ignore>
Research Support, Non-U.S. Gov&#x27;t
</button><div id="keyword-actions-publication-types-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Research Support, Non-U.S. Gov&#x27;t"><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=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="pub_type"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
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=Research+Support%2C+Non-U.S.+Gov%27t"
data-ga-category="search_mesh"
data-ga-action="pub_type_link"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
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="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[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 Abnormalities, Multiple / diagnosis*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-0"
aria-expanded="false"
data-pinger-ignore>
Abnormalities, Multiple / diagnosis*
</button><div id="keyword-actions-mesh-terms-major-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Abnormalities, Multiple / diagnosis*"><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=%22Abnormalities%2C+Multiple%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Abnormalities%2C+Multiple%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Abnormalities, Multiple/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Abnormalities, Multiple / diagnosis*">
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=Abnormalities%2C+Multiple"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Abnormalities, Multiple / diagnosis*">
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="&quot;Abnormalities, Multiple/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Abnormalities, Multiple/diagnosis&quot;[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 Abnormalities, Multiple / epidemiology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-1"
aria-expanded="false"
data-pinger-ignore>
Abnormalities, Multiple / epidemiology
</button><div id="keyword-actions-mesh-terms-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Abnormalities, Multiple / epidemiology"><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=%22Abnormalities%2C+Multiple%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Abnormalities%2C+Multiple%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Abnormalities, Multiple/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Abnormalities, Multiple / epidemiology">
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=Abnormalities%2C+Multiple"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Abnormalities, Multiple / epidemiology">
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="&quot;Abnormalities, Multiple/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Abnormalities, Multiple/epidemiology&quot;[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 Abnormalities, Multiple / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-2"
aria-expanded="false"
data-pinger-ignore>
Abnormalities, Multiple / genetics*
</button><div id="keyword-actions-mesh-terms-major-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Abnormalities, Multiple / 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=%22Abnormalities%2C+Multiple%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Abnormalities%2C+Multiple%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Abnormalities, Multiple/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Abnormalities, Multiple / 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=Abnormalities%2C+Multiple"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Abnormalities, Multiple / 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="&quot;Abnormalities, Multiple/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Abnormalities, Multiple/genetics&quot;[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 Adaptor Proteins, Signal Transducing / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-3"
aria-expanded="false"
data-pinger-ignore>
Adaptor Proteins, Signal Transducing / genetics
</button><div id="keyword-actions-mesh-terms-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Adaptor Proteins, Signal Transducing / 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=%22Adaptor+Proteins%2C+Signal+Transducing%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Adaptor Proteins, Signal Transducing/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Adaptor Proteins, Signal Transducing / 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=Adaptor+Proteins%2C+Signal+Transducing"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Adaptor Proteins, Signal Transducing / 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="&quot;Adaptor Proteins, Signal Transducing/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adaptor Proteins, Signal Transducing/genetics&quot;[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 Adaptor Proteins, Vesicular Transport"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-4"
aria-expanded="false"
data-pinger-ignore>
Adaptor Proteins, Vesicular Transport
</button><div id="keyword-actions-mesh-terms-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Adaptor Proteins, Vesicular Transport"><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=%22Adaptor+Proteins%2C+Vesicular+Transport%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adaptor+Proteins%2C+Vesicular+Transport%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Adaptor Proteins, Vesicular Transport&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Adaptor Proteins, Vesicular Transport">
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=Adaptor+Proteins%2C+Vesicular+Transport"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Adaptor Proteins, Vesicular Transport">
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="&quot;Adaptor Proteins, Vesicular Transport&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adaptor Proteins, Vesicular Transport&quot;[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 Adolescent"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-5"
aria-expanded="false"
data-pinger-ignore>
Adolescent
</button><div id="keyword-actions-mesh-terms-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Adolescent"><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=%22Adolescent%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adolescent%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Adolescent&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Adolescent">
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=Adolescent"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Adolescent">
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="&quot;Adolescent&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adolescent&quot;[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 Cerebellum / abnormalities*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-6"
aria-expanded="false"
data-pinger-ignore>
Cerebellum / abnormalities*
</button><div id="keyword-actions-mesh-terms-major-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cerebellum / abnormalities*"><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=%22Cerebellum%2Fabnormalities%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cerebellum%2Fabnormalities%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Cerebellum/abnormalities&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Cerebellum / abnormalities*">
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=Cerebellum"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Cerebellum / abnormalities*">
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="&quot;Cerebellum/abnormalities&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cerebellum/abnormalities&quot;[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 Child"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-7"
aria-expanded="false"
data-pinger-ignore>
Child
</button><div id="keyword-actions-mesh-terms-7"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Child%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Child&quot;[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="&quot;Child&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Child&quot;[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, Preschool"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-8"
aria-expanded="false"
data-pinger-ignore>
Child, Preschool
</button><div id="keyword-actions-mesh-terms-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Child, Preschool"><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%2C+Preschool%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Child, Preschool&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Child, Preschool">
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%2C+Preschool"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Child, Preschool">
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="&quot;Child, Preschool&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Child, Preschool&quot;[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 Cytoskeletal Proteins"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-9"
aria-expanded="false"
data-pinger-ignore>
Cytoskeletal Proteins
</button><div id="keyword-actions-mesh-terms-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cytoskeletal 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=%22Cytoskeletal+Proteins%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cytoskeletal+Proteins%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Cytoskeletal Proteins&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Cytoskeletal 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=Cytoskeletal+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Cytoskeletal 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="&quot;Cytoskeletal Proteins&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cytoskeletal Proteins&quot;[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 Eye Abnormalities / diagnosis*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-10"
aria-expanded="false"
data-pinger-ignore>
Eye Abnormalities / diagnosis*
</button><div id="keyword-actions-mesh-terms-major-10"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Eye Abnormalities / diagnosis*"><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=%22Eye+Abnormalities%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eye+Abnormalities%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Eye Abnormalities/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Eye Abnormalities / diagnosis*">
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=Eye+Abnormalities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Eye Abnormalities / diagnosis*">
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="&quot;Eye Abnormalities/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Eye Abnormalities/diagnosis&quot;[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 Eye Abnormalities / epidemiology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-11"
aria-expanded="false"
data-pinger-ignore>
Eye Abnormalities / epidemiology
</button><div id="keyword-actions-mesh-terms-11"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Eye Abnormalities / epidemiology"><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=%22Eye+Abnormalities%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eye+Abnormalities%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Eye Abnormalities/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Eye Abnormalities / epidemiology">
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=Eye+Abnormalities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Eye Abnormalities / epidemiology">
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="&quot;Eye Abnormalities/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Eye Abnormalities/epidemiology&quot;[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 Eye Abnormalities / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-12"
aria-expanded="false"
data-pinger-ignore>
Eye Abnormalities / genetics*
</button><div id="keyword-actions-mesh-terms-major-12"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Eye Abnormalities / 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=%22Eye+Abnormalities%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eye+Abnormalities%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Eye Abnormalities/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Eye Abnormalities / 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=Eye+Abnormalities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Eye Abnormalities / 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="&quot;Eye Abnormalities/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Eye Abnormalities/genetics&quot;[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 Female"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-13"
aria-expanded="false"
data-pinger-ignore>
Female
</button><div id="keyword-actions-mesh-terms-13"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Female%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Female&quot;[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="&quot;Female&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Female&quot;[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 Genetic Counseling*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-14"
aria-expanded="false"
data-pinger-ignore>
Genetic Counseling*
</button><div id="keyword-actions-mesh-terms-major-14"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Genetic Counseling*"><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=%22Genetic+Counseling%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Genetic+Counseling%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genetic Counseling&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Genetic Counseling*">
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=Genetic+Counseling"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Genetic Counseling*">
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="&quot;Genetic Counseling&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Genetic Counseling&quot;[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 Genotype"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-15"
aria-expanded="false"
data-pinger-ignore>
Genotype
</button><div id="keyword-actions-mesh-terms-15"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Genotype"><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=%22Genotype%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Genotype%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genotype&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Genotype">
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=Genotype"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Genotype">
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="&quot;Genotype&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Genotype&quot;[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 High-Throughput Nucleotide Sequencing"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-16"
aria-expanded="false"
data-pinger-ignore>
High-Throughput Nucleotide Sequencing
</button><div id="keyword-actions-mesh-terms-16"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword High-Throughput Nucleotide Sequencing"><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=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;High-Throughput Nucleotide Sequencing&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="High-Throughput Nucleotide Sequencing">
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=High-Throughput+Nucleotide+Sequencing"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="High-Throughput Nucleotide Sequencing">
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="&quot;High-Throughput Nucleotide Sequencing&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;High-Throughput Nucleotide Sequencing&quot;[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 Humans"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-17"
aria-expanded="false"
data-pinger-ignore>
Humans
</button><div id="keyword-actions-mesh-terms-17"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[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="&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Humans&quot;[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 Infant"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-18"
aria-expanded="false"
data-pinger-ignore>
Infant
</button><div id="keyword-actions-mesh-terms-18"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Infant"><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=%22Infant%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Infant%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Infant&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Infant">
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=Infant"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Infant">
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="&quot;Infant&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Infant&quot;[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 Kidney Diseases, Cystic / diagnosis*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-19"
aria-expanded="false"
data-pinger-ignore>
Kidney Diseases, Cystic / diagnosis*
</button><div id="keyword-actions-mesh-terms-major-19"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Kidney Diseases, Cystic / diagnosis*"><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=%22Kidney+Diseases%2C+Cystic%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Kidney+Diseases%2C+Cystic%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Kidney Diseases, Cystic/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Kidney Diseases, Cystic / diagnosis*">
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=Kidney+Diseases%2C+Cystic"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Kidney Diseases, Cystic / diagnosis*">
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="&quot;Kidney Diseases, Cystic/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Kidney Diseases, Cystic/diagnosis&quot;[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 Kidney Diseases, Cystic / epidemiology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-20"
aria-expanded="false"
data-pinger-ignore>
Kidney Diseases, Cystic / epidemiology
</button><div id="keyword-actions-mesh-terms-20"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Kidney Diseases, Cystic / epidemiology"><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=%22Kidney+Diseases%2C+Cystic%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Kidney+Diseases%2C+Cystic%2Fepidemiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Kidney Diseases, Cystic/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Kidney Diseases, Cystic / epidemiology">
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=Kidney+Diseases%2C+Cystic"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Kidney Diseases, Cystic / epidemiology">
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="&quot;Kidney Diseases, Cystic/epidemiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Kidney Diseases, Cystic/epidemiology&quot;[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 Kidney Diseases, Cystic / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-21"
aria-expanded="false"
data-pinger-ignore>
Kidney Diseases, Cystic / genetics*
</button><div id="keyword-actions-mesh-terms-major-21"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Kidney Diseases, Cystic / 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=%22Kidney+Diseases%2C+Cystic%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Kidney+Diseases%2C+Cystic%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Kidney Diseases, Cystic/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Kidney Diseases, Cystic / 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=Kidney+Diseases%2C+Cystic"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Kidney Diseases, Cystic / 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="&quot;Kidney Diseases, Cystic/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Kidney Diseases, Cystic/genetics&quot;[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 Male"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-22"
aria-expanded="false"
data-pinger-ignore>
Male
</button><div id="keyword-actions-mesh-terms-22"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Male%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Male&quot;[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="&quot;Male&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Male&quot;[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 Membrane Proteins / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-23"
aria-expanded="false"
data-pinger-ignore>
Membrane Proteins / genetics
</button><div id="keyword-actions-mesh-terms-23"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Membrane 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=%22Membrane+Proteins%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Membrane+Proteins%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Membrane Proteins/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Membrane 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=Membrane+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Membrane 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="&quot;Membrane Proteins/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Membrane Proteins/genetics&quot;[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 Pathology, Molecular*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-24"
aria-expanded="false"
data-pinger-ignore>
Pathology, Molecular*
</button><div id="keyword-actions-mesh-terms-major-24"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Pathology, Molecular*"><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=%22Pathology%2C+Molecular%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Pathology%2C+Molecular%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Pathology, Molecular&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Pathology, Molecular*">
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=Pathology%2C+Molecular"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Pathology, Molecular*">
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="&quot;Pathology, Molecular&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Pathology, Molecular&quot;[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 Proteins / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-25"
aria-expanded="false"
data-pinger-ignore>
Proteins / genetics
</button><div id="keyword-actions-mesh-terms-25"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword 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=%22Proteins%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Proteins%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Proteins/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="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=Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="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="&quot;Proteins/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Proteins/genetics&quot;[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 Retina / abnormalities*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-26"
aria-expanded="false"
data-pinger-ignore>
Retina / abnormalities*
</button><div id="keyword-actions-mesh-terms-major-26"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Retina / abnormalities*"><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=%22Retina%2Fabnormalities%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Retina%2Fabnormalities%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Retina/abnormalities&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Retina / abnormalities*">
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=Retina"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Retina / abnormalities*">
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="&quot;Retina/abnormalities&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Retina/abnormalities&quot;[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 Young Adult"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-27"
aria-expanded="false"
data-pinger-ignore>
Young Adult
</button><div id="keyword-actions-mesh-terms-27"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Young Adult"><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=%22Young+Adult%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Young+Adult%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Young Adult&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Young Adult">
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=Young+Adult"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Young Adult">
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="&quot;Young Adult&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Young Adult&quot;[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 AHI1 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-0"
aria-expanded="false"
data-pinger-ignore>
AHI1 protein, human
</button><div id="keyword-actions-substances-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword AHI1 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=%22AHI1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22AHI1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;AHI1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="AHI1 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=%22AHI1+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="AHI1 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="&quot;AHI1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;AHI1 protein, human&quot;[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 Adaptor Proteins, Signal Transducing"
tabindex="0"
aria-controls="keyword-actions-substances-1"
aria-expanded="false"
data-pinger-ignore>
Adaptor Proteins, Signal Transducing
</button><div id="keyword-actions-substances-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Adaptor Proteins, Signal Transducing"><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=%22Adaptor+Proteins%2C+Signal+Transducing%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Adaptor Proteins, Signal Transducing&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Adaptor Proteins, Signal Transducing">
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=%22Adaptor+Proteins%2C+Signal+Transducing%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Adaptor Proteins, Signal Transducing">
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="&quot;Adaptor Proteins, Signal Transducing&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adaptor Proteins, Signal Transducing&quot;[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 Adaptor Proteins, Vesicular Transport"
tabindex="0"
aria-controls="keyword-actions-substances-2"
aria-expanded="false"
data-pinger-ignore>
Adaptor Proteins, Vesicular Transport
</button><div id="keyword-actions-substances-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Adaptor Proteins, Vesicular Transport"><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=%22Adaptor+Proteins%2C+Vesicular+Transport%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adaptor+Proteins%2C+Vesicular+Transport%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Adaptor Proteins, Vesicular Transport&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Adaptor Proteins, Vesicular Transport">
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=%22Adaptor+Proteins%2C+Vesicular+Transport%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Adaptor Proteins, Vesicular Transport">
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="&quot;Adaptor Proteins, Vesicular Transport&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adaptor Proteins, Vesicular Transport&quot;[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 B9D1 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-3"
aria-expanded="false"
data-pinger-ignore>
B9D1 protein, human
</button><div id="keyword-actions-substances-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword B9D1 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=%22B9D1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22B9D1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;B9D1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="B9D1 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=%22B9D1+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="B9D1 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="&quot;B9D1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;B9D1 protein, human&quot;[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 CC2D2A protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-4"
aria-expanded="false"
data-pinger-ignore>
CC2D2A protein, human
</button><div id="keyword-actions-substances-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword CC2D2A 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=%22CC2D2A+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22CC2D2A+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;CC2D2A protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="CC2D2A 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=%22CC2D2A+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="CC2D2A 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="&quot;CC2D2A protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;CC2D2A protein, human&quot;[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 CPLANE1 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-5"
aria-expanded="false"
data-pinger-ignore>
CPLANE1 protein, human
</button><div id="keyword-actions-substances-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword CPLANE1 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=%22CPLANE1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22CPLANE1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;CPLANE1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="CPLANE1 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=%22CPLANE1+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="CPLANE1 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="&quot;CPLANE1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;CPLANE1 protein, human&quot;[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 Cytoskeletal Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-6"
aria-expanded="false"
data-pinger-ignore>
Cytoskeletal Proteins
</button><div id="keyword-actions-substances-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cytoskeletal 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=%22Cytoskeletal+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Cytoskeletal Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Cytoskeletal 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=%22Cytoskeletal+Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Cytoskeletal 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="&quot;Cytoskeletal Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cytoskeletal Proteins&quot;[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 Membrane Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-7"
aria-expanded="false"
data-pinger-ignore>
Membrane Proteins
</button><div id="keyword-actions-substances-7"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Membrane 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=%22Membrane+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Membrane+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Membrane Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Membrane 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=%22Membrane+Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Membrane 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="&quot;Membrane Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Membrane Proteins&quot;[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 Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-8"
aria-expanded="false"
data-pinger-ignore>
Proteins
</button><div id="keyword-actions-substances-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword 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=%22Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="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=%22Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="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="&quot;Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Proteins&quot;[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 TMEM67 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-9"
aria-expanded="false"
data-pinger-ignore>
TMEM67 protein, human
</button><div id="keyword-actions-substances-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword TMEM67 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=%22TMEM67+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22TMEM67+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;TMEM67 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="TMEM67 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=%22TMEM67+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="TMEM67 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="&quot;TMEM67 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;TMEM67 protein, human&quot;[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 Agenesis of Cerebellar Vermis"
tabindex="0"
aria-controls="keyword-actions-supplementary-concepts-0"
aria-expanded="false"
data-pinger-ignore>
Agenesis of Cerebellar Vermis
</button><div id="keyword-actions-supplementary-concepts-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Agenesis of Cerebellar Vermis"><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=%22Agenesis+of+Cerebellar+Vermis%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Agenesis+of+Cerebellar+Vermis%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Agenesis of Cerebellar Vermis&quot;[nm]"
data-ga-category="search"
data-ga-action="supplementary_concept"
data-ga-label="Agenesis of Cerebellar Vermis">
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=Agenesis+of+Cerebellar+Vermis"
data-ga-category="search_mesh"
data-ga-action="supplementary_concept_link"
data-ga-label="Agenesis of Cerebellar Vermis">
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="&quot;Agenesis of Cerebellar Vermis&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Agenesis of Cerebellar Vermis&quot;[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="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=1">
Cited in Books
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=2">
ClinVar
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=3">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=4">
MedGen (Bookshelf cited)
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=5">
Protein
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=25920555"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25920555&ordinalpos=1&linkpos=6">
SNP
</a></li></ul>
</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://europepmc.org/abstract/MED/25920555"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=6082&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Europe PubMed Central"
>
Europe PubMed Central
</a></li><li><a
href="https://doi.org/10.1038/ejhg.2015.84"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3094&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Nature Publishing Group"
>
Nature Publishing Group
</a></li><li><a
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25920555/"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3494&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="PubMed Central"
>
PubMed Central
</a></li></ul></li><li><h3 class="linkout-category">Other Literature Sources</h3><ul class="linkout-category-links"><li><a
href="https://scite.ai/reports/25920555"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=10307&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Other Literature Sources"
data-ga-label="scite Smart Citations"
>
scite Smart Citations
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
href="https://medlineplus.gov/kidneycysts.html"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3162&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Medical"
data-ga-label="MedlinePlus Health Information"
>
MedlinePlus Health Information
</a></li></ul></li><li><h3 class="linkout-category">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
href="https://glygen.org/publication/PubMed/25920555/"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=10227&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Molecular Biology Databases"
data-ga-label="GlyGen glycoinformatics resource"
>
GlyGen glycoinformatics resource
</a></li><li><a
href="https://www.malacards.org/card/joubert_syndrome_13"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=8598&uid=25920555&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Molecular Biology Databases"
data-ga-label="The Weizmann Institute of Science GeneCards and MalaCards databases"
>
The Weizmann Institute of Science GeneCards and MalaCards databases
</a></li></ul></li></ul>
</div>
</main>
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
<strong class="title">Full text links</strong>
<button class="close-overlay" tabindex="3">[x]</button>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1038/ejhg.2015.84"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3094&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25920555&amp;db=pubmed&amp;nlmid=9302235"
title="See full text options at Nature Publishing Group"
tabindex="1"
data-ga-category="full_text"
data-ga-action="Nature Publishing Group"
data-ga-label="25920555"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nature.com-static-images-logos-nature-portfolio-120.png" alt="Nature Publishing Group full text link"><span class="text">
Nature Publishing Group
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25920555/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25920555&amp;db=pubmed&amp;nlmid=9302235"
title="Free full text at PubMed Central"
tabindex="2"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="25920555"
><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="tJBuZzlyh9R0qWyMSavgX2FJTYs7vQmZKwlzCpOURKEuknECvt8irabnr2ajorUj">
<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%2F25920555%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%2F25920555%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%2F25920555%2F",
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/25920555/"
},
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: "/25920555/adj-nav/",
adjNavSearchIdCookieName: "pm-adjnav-sid",
articlePageUrl: "/25920555/",
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>