5022 lines
No EOL
190 KiB
HTML
5022 lines
No EOL
190 KiB
HTML
<!DOCTYPE html>
|
||
|
||
|
||
|
||
|
||
<html lang="en" >
|
||
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
|
||
<meta charset="UTF-8">
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge">
|
||
|
||
<!-- Mobile properties -->
|
||
<meta name="HandheldFriendly" content="True">
|
||
<meta name="MobileOptimized" content="320">
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0">
|
||
|
||
|
||
|
||
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.google-analytics.com">
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.b576742ffc3e.css" type="text/css">
|
||
|
||
|
||
|
||
<title>Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 - 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="4442000106AC1145000027D0118AE273.1.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="20717171" />
|
||
|
||
<meta name="ncbi_uid" content="20717171" />
|
||
|
||
<meta name="log_displayeduids" content="20717171" />
|
||
|
||
<meta name="log_source_db" content="pubmed,pmc" />
|
||
|
||
<meta name="log_icons_present" content="true" />
|
||
|
||
<meta name="ncbi_search_id" content="Q7hLOVgautAKuOGfk56gDw:ddd8762199b61296a31bcf8ca67a3c18" />
|
||
|
||
<meta name="ncbi_adj_nav_search_id" content="USRpAvZQOz3MlgCQMpn2IA:f0b8907b4c16b0f5cc2ce90cbc48936d" />
|
||
|
||
|
||
|
||
|
||
<!-- Social meta tags for unfurling urls -->
|
||
|
||
<meta name="description" content="Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four i …"><meta name="keywords" content="pmid:20717171, PMC3039503, doi:10.1038/ejhg.2010.136, Research Support, Non-U.S. Gov't, Siddharth Banka, Elena Chervinsky, Stavit Shalev, Adolescent, Adult, Child, Preschool, Congenital Bone Marrow Failure Syndromes, Consanguinity, Developmental Disabilities / genetics, Exons / genetics, Female, Glucose-6-Phosphatase / genetics*, Glycogen Storage Disease Type I / genetics, Heart Defects, Congenital / genetics, Humans, Learning Disabilities / genetics, Male, Mutation*, Neutropenia / congenital, Neutropenia / genetics, Neutropenia / physiopathology, Pedigree, Phenotype, 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="Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/20717171/"><meta property="og:description" content="Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four i …"><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="Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/20717171/"><meta name="twitter:description" content="Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four i …"><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="Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3">
|
||
|
||
|
||
<meta name="citation_authors" content="Banka S;Chervinsky E;Newman WG;Crow YJ;Yeganeh S;Yacobovich J;Donnai D;Shalev S;">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_date" content="2011 Jan">
|
||
|
||
|
||
|
||
<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="20717171">
|
||
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/20717171/">
|
||
|
||
|
||
<meta name="citation_volume" content="19">
|
||
|
||
|
||
<meta name="citation_issue" content="1">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_doi" content="10.1038/ejhg.2010.136">
|
||
|
||
|
||
<meta name="citation_issn" content="1476-5438">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/20717171/" />
|
||
|
||
|
||
|
||
</head>
|
||
<body >
|
||
|
||
|
||
|
||
<noscript>
|
||
<div class="no-script-banner" id="no-script-banner">
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</noscript>
|
||
|
||
<div class="no-session-banner" id="no-session-banner" hidden>
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
Clipboard, Search History, and several other advanced features are temporarily unavailable.
|
||
</div>
|
||
<button class="close-banner-button"
|
||
title="Close Clipboard and Search History not available warning banner"
|
||
ref="linksrc=close_no_session_banner"
|
||
aria-controls="no-session-banner"
|
||
aria-label="Close Clipboard and Search History not available warning banner"
|
||
aria-expanded="true">
|
||
</button>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<a class="usa-skipnav" href="#article-details">
|
||
Skip to main page content
|
||
</a>
|
||
|
||
<!-- ========== BEGIN HEADER ========== -->
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button
|
||
class="usa-accordion-button usa-banner-button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-top"
|
||
>
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner-content usa-grid usa-accordion-content"
|
||
id="gov-banner-top"
|
||
>
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
|
||
alt="Dot gov"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it’s official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you’re on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
|
||
alt="Https"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none"
|
||
aria-controls="account_popup">
|
||
<span class="fa fa-user" aria-hidden="true"></span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br/>
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
<!-- ========== END HEADER ========== -->
|
||
|
||
|
||
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
|
||
|
||
|
||
|
||
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
<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%2F20717171%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%2F20717171%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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
</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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
|
||
|
||
<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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
<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: 20717171 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 20717171"/>
|
||
<input type="hidden" name="email-subject-hash" value="236f651da1513e99a565eb4ae4be1093ee042c55209070ea52acdde12a926f57"/>
|
||
</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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
|
||
|
||
<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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
|
||
|
||
<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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="20717171">
|
||
<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.2010.136"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=20717171&db=pubmed&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="20717171"
|
||
><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/20717171/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=20717171&db=pubmed&nlmid=9302235"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="20717171"
|
||
><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="/20717171/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/20717171/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="20717171" 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%2F20717171%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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
<a href="http://twitter.com/intent/tweet?text=Further%20delineation%20of%20the%20phenotype%20of%20severe%20congenital%20neutropenia%20type%204%20due%20to%20mutations%20in%20G6PC3%20https%3A//pubmed.ncbi.nlm.nih.gov/20717171/"
|
||
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/20717171/"
|
||
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/20717171/"
|
||
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
|
||
title="Copy article permalink"
|
||
data-ga-category="save_share"
|
||
data-ga-action="link"
|
||
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Page navigation
|
||
</h3>
|
||
<ul class="items-list">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="heading ">
|
||
<a href="#heading"
|
||
aria-label="navigate to Title & authors section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="heading">
|
||
Title & authors
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="abstract ">
|
||
<a href="#abstract"
|
||
aria-label="navigate to Abstract section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="abstract">
|
||
Abstract
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="figures ">
|
||
<a href="#figures"
|
||
aria-label="navigate to Figures section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="figures">
|
||
Figures
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="similar ">
|
||
<a href="#similar"
|
||
aria-label="navigate to Similar articles section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="similar">
|
||
Similar articles
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="citedby ">
|
||
<a href="#citedby"
|
||
aria-label="navigate to Cited by section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="citedby">
|
||
Cited by
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="references ">
|
||
<a href="#references"
|
||
aria-label="navigate to References section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="references">
|
||
References
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="publication-types ">
|
||
<a href="#publication-types"
|
||
aria-label="navigate to Publication types section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="publication-types">
|
||
Publication types
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="mesh-terms ">
|
||
<a href="#mesh-terms"
|
||
aria-label="navigate to MeSH terms section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="mesh-terms">
|
||
MeSH terms
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="substances ">
|
||
<a href="#substances"
|
||
aria-label="navigate to Substances section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="substances">
|
||
Substances
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="supplementary-concepts ">
|
||
<a href="#supplementary-concepts"
|
||
aria-label="navigate to Supplementary concepts section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="supplementary-concepts">
|
||
Supplementary concepts
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="related-links ">
|
||
<a href="#related-links"
|
||
aria-label="navigate to Related information section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="related-links">
|
||
Related information
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="linkout ">
|
||
<a href="#linkout"
|
||
aria-label="navigate to LinkOut - more resources section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="linkout">
|
||
LinkOut - more resources
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="heading">Title & authors</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="abstract">Abstract</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="figures">Figures</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="similar">Similar articles</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="citedby">Cited by</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="references">References</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="publication-types">Publication types</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="mesh-terms">MeSH terms</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="substances">Substances</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="supplementary-concepts">Supplementary concepts</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="related-links">Related information</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="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&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&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">2011 Jan;19(1):18-22.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1038/ejhg.2010.136.
|
||
</span>
|
||
|
||
|
||
|
||
<span class="secondary-date">
|
||
Epub 2010 Aug 18.
|
||
</span>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="inline-authors">
|
||
|
||
|
||
|
||
|
||
|
||
<div class="authors">
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Banka+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Siddharth Banka">Siddharth Banka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK. Siddharth.Banka@manchester.ac.uk" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chervinsky+E&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Elena Chervinsky">Elena Chervinsky</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Newman+WG&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="William G Newman">William G Newman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Crow+YJ&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Yanick J Crow">Yanick J Crow</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yeganeh+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Shay Yeganeh">Shay Yeganeh</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yacobovich+J&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Joanne Yacobovich">Joanne Yacobovich</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Donnai+D&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dian Donnai">Dian Donnai</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Shalev+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stavit Shalev">Stavit Shalev</a></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="/20717171/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">
|
||
Affiliation
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="full-view-affiliation-1"
|
||
id="full-view-affiliation-1"
|
||
><sup class="key">1</sup> Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK. Siddharth.Banka@manchester.ac.uk</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">20717171</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC3039503&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3039503/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC3039503
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1038/ejhg.2010.136&id_type=DOI"
|
||
href="https://doi.org/10.1038/ejhg.2010.136"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1038/ejhg.2010.136
|
||
</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">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="short-citation">
|
||
<span class="authors-list">
|
||
|
||
|
||
<span class="authors-list-item "><span class="full-name">Siddharth Banka</span><span class="citation-separator"> 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">2011 Jan</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="/20717171/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&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&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">2011 Jan;19(1):18-22.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1038/ejhg.2010.136.
|
||
</span>
|
||
|
||
|
||
|
||
<span class="secondary-date">
|
||
Epub 2010 Aug 18.
|
||
</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=Banka+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Siddharth Banka">Siddharth Banka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK. Siddharth.Banka@manchester.ac.uk" href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chervinsky+E&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Elena Chervinsky">Elena Chervinsky</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Newman+WG&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="William G Newman">William G Newman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Crow+YJ&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Yanick J Crow">Yanick J Crow</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yeganeh+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Shay Yeganeh">Shay Yeganeh</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yacobovich+J&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Joanne Yacobovich">Joanne Yacobovich</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Donnai+D&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dian Donnai">Dian Donnai</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Shalev+S&cauthor_id=20717171"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stavit Shalev">Stavit Shalev</a></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliation
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK. Siddharth.Banka@manchester.ac.uk</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">20717171</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC3039503&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3039503/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC3039503
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1038/ejhg.2010.136&id_type=DOI"
|
||
href="https://doi.org/10.1038/ejhg.2010.136"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1038/ejhg.2010.136
|
||
</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="/20717171/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/20717171/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>
|
||
|
||
Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four individuals with SCN4 who belong to a single large consanguineous kindred. We provide an overview of the non-haematological features of the condition with a focus on the adult phenotype, which has not been previously described in detail. We show that the superficial venous changes seen in SCN4 patients can develop into varicose veins and venous ulcers in adulthood. We review the range of congenital anomalies associated with SCN4. We demonstrate that secundum atrial septal defect, patent ductus arteriosus and valvular defects are the most frequent cardiac anomalies in SCN4. Drawing parallels with type 1 glycogen storage disease, we propose that poor growth of prenatal onset, mild-to-moderate learning disability, primary pulmonary hypertension, delayed or incomplete puberty, hypothyroidism and dysmorphism likely represent features of this syndrome. We also suggest monitoring for lipid anomalies, and kidney and liver function in affected patients. Delineation of the SCN4 phenotype may help in appropriate treatment and management and provide further insights into the pathogenesis of this multisystem disease.
|
||
</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="figures" id="figures">
|
||
<h2 class="title">
|
||
Figures
|
||
</h2>
|
||
|
||
<div class="figures-list" id="slides-container"
|
||
itemscope itemtype="http://schema.org/ImageGallery">
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="0"
|
||
data-label-slug="figure-1">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/a2077b5e4310/ejhg2010136f1.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-0"
|
||
role="button"
|
||
data-image-width="624"
|
||
data-image-height="250"
|
||
data-image-alt="Figure 1"
|
||
data-pmc-id="PMC3039503"
|
||
data-figure-id="fig1">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-0"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/1ea66c26fd06/ejhg2010136f1.gif"
|
||
alt="Figure 1" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="624">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="250">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Pedigrees of one large and… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Pedigrees of one large and one small nuclear family are represented. Both the… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 1
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Pedigrees of one large and one small nuclear family are represented. Both the families belong to a single kindred although the exact relationship between them is not certain.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="1"
|
||
data-label-slug="figure-2">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/08e7f249c440/ejhg2010136f2.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-1"
|
||
role="button"
|
||
data-image-width="400"
|
||
data-image-height="244"
|
||
data-image-alt="Figure 2"
|
||
data-pmc-id="PMC3039503"
|
||
data-figure-id="fig2">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-1"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/ec880daadaac/ejhg2010136f2.gif"
|
||
alt="Figure 2" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="400">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="244">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> ( <b> a </b> , <b> b </b> )… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> ( <b> a </b> , <b> b </b> ) Front and profile of patient 2 showing full… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">(<b>a</b>, <b>b</b>) Front and profile of patient 2 showing full cheeks (similar to what is seen in GSD1), prominent lips and low hairlines.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="2"
|
||
data-label-slug="figure-3">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/9707099efe2b/ejhg2010136f3.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-2"
|
||
role="button"
|
||
data-image-width="495"
|
||
data-image-height="388"
|
||
data-image-alt="Figure 3"
|
||
data-pmc-id="PMC3039503"
|
||
data-figure-id="fig3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-2"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9224/3039503/d65ddbf4e131/ejhg2010136f3.gif"
|
||
alt="Figure 3" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="495">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="388">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> ( <b> a </b> ) Homozygous mutation… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> ( <b> a </b> ) Homozygous mutation c.758G>A in exon 6 of <i> G6PC3 </i> of patient… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">(<b>a</b>) Homozygous mutation c.758G>A in exon 6 of <i>G6PC3</i> of patient 1. (<b>b</b>) Corresponding normal sequence from a control subject.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<!-- Root element of PhotoSwipe. Must have class pswp. -->
|
||
<div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true"
|
||
data-image-gallery-uid="article-figures" aria-label="Figures Dialog">
|
||
<!-- Background of PhotoSwipe.
|
||
It's a separate element as animating opacity is faster than rgba(). -->
|
||
<div class="pswp__bg"></div>
|
||
|
||
<!-- Slides wrapper with overflow:hidden. -->
|
||
<div class="pswp__scroll-wrap">
|
||
<!-- Container that holds slides.
|
||
PhotoSwipe keeps only 3 of them in the DOM to save memory.
|
||
Don't modify these 3 pswp__item elements, data is added later on. -->
|
||
<div class="pswp__container">
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
</div>
|
||
|
||
<!-- Default (PhotoSwipeUI_Default) interface on top of sliding area. Can be changed. -->
|
||
<div class="pswp__ui pswp__ui--hidden">
|
||
<div class="pswp__top-bar">
|
||
<!-- Controls are self-explanatory. Order can be changed. -->
|
||
<div class="pswp__counter"></div>
|
||
<button class="pswp__button pswp__button--close" title="Close (Esc)"></button>
|
||
<button class="pswp__button pswp__button--share" title="Share"></button>
|
||
<button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button>
|
||
<button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>
|
||
|
||
<!-- Preloader demo http://codepen.io/dimsemenov/pen/yyBWoR -->
|
||
<!-- element will get class pswp__preloader--active when preloader is running -->
|
||
<div class="pswp__preloader">
|
||
<div class="pswp__preloader__icn">
|
||
<div class="pswp__preloader__cut">
|
||
<div class="pswp__preloader__donut"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap">
|
||
<div class="pswp__share-tooltip"></div>
|
||
</div>
|
||
|
||
<button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)">
|
||
</button>
|
||
|
||
<button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)">
|
||
</button>
|
||
|
||
<div class="pswp__caption">
|
||
<div class="pswp__caption__center"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-dialog-caption">
|
||
<div class="figure-caption-link-container">
|
||
<a class="figure-caption-link" href="#">See this image and copyright information in PMC</a>
|
||
</div>
|
||
<div class="figure-caption-center"
|
||
data-expand-title="click to show full caption"
|
||
data-collapse-title="click to hide full caption">
|
||
</div>
|
||
<button class="figure-caption-toggle-btn"
|
||
aria-label="show full caption"
|
||
data-expand-text="show full caption"
|
||
data-collapse-text="hide full caption">
|
||
<!-- Dynamic text -->
|
||
</button>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="similar-articles" id="similar">
|
||
<h2 class="title">
|
||
Similar articles
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="similar-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/34137364/"
|
||
ref="article_id=34137364&linksrc=similar_articles_link&ordinalpos=1"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="34137364"
|
||
data-ga-label="">
|
||
|
||
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Maroufi SF, Shaka Z, Mojtabavi H, Sadeghalvad M, Rayzan E, Sedighi I, Shahkarami S, Najafi M, Rohlfs M, Klein C, Rezaei N.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Maroufi SF, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668. doi: 10.2174/1871530321666210616110631.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Endocr Metab Immune Disord Drug Targets. 2021.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">34137364</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="/23758768/"
|
||
ref="article_id=23758768&linksrc=similar_articles_link&ordinalpos=2"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="23758768"
|
||
data-ga-label="">
|
||
|
||
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Banka S, Newman WG.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Banka S, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Orphanet J Rare Dis. 2013.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">23758768</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="/23171239/"
|
||
ref="article_id=23171239&linksrc=similar_articles_link&ordinalpos=3"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="23171239"
|
||
data-ga-label="">
|
||
|
||
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Fernandez BA, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">BMC Med Genet. 2012.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">23171239</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="/25391451/"
|
||
ref="article_id=25391451&linksrc=similar_articles_link&ordinalpos=4"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="25391451"
|
||
data-ga-label="">
|
||
|
||
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Notarangelo LD, Savoldi G, Cavagnini S, Bennato V, Vasile S, Pilotta A, Plebani A, Porta F.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Notarangelo LD, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Ital J Pediatr. 2014 Nov 14;40:80. doi: 10.1186/s13052-014-0080-8.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Ital J Pediatr. 2014.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">25391451</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="/34305938/"
|
||
ref="article_id=34305938&linksrc=similar_articles_link&ordinalpos=5"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="34305938"
|
||
data-ga-label="">
|
||
|
||
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by <em>G6PC3</em> Mutations.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Dai R, Lv G, Li W, Tang W, Chen J, Liu Q, Yang L, Zhang M, Tian Z, Zhou L, Yan X, Wang Y, Ding Y, An Y, Zhang Z, Tang X, Zhao X.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Dai R, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Front Immunol. 2021 Jul 8;12:699743. doi: 10.3389/fimmu.2021.699743. eCollection 2021.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Front Immunol. 2021.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">34305938</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&from_uid=20717171"
|
||
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="/23196894/"
|
||
ref="article_id=23196894&linksrc=citedby_articles_link&ordinalpos=1"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="23196894"
|
||
data-ga-label="">
|
||
|
||
Neutropenia in primary immunodeficiency.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Sokolic R.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Sokolic R.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Curr Opin Hematol. 2013 Jan;20(1):55-65. doi: 10.1097/MOH.0b013e32835aef1c.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Curr Opin Hematol. 2013.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">23196894</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="/25491320/"
|
||
ref="article_id=25491320&linksrc=citedby_articles_link&ordinalpos=2"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="25491320"
|
||
data-ga-label="">
|
||
|
||
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Desplantes C, Fremond ML, Beaupain B, Harousseau JL, Buzyn A, Pellier I, Roques G, Morville P, Paillard C, Bruneau J, Pinson L, Jeziorski E, Vannier JP, Picard C, Bellanger F, Romero N, de Pontual L, Lapillonne H, Lutz P, Chantelot CB, Donadieu J.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Desplantes C, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Orphanet J Rare Dis. 2014 Dec 10;9:183. doi: 10.1186/s13023-014-0183-8.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Orphanet J Rare Dis. 2014.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">25491320</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="/31652152/"
|
||
ref="article_id=31652152&linksrc=citedby_articles_link&ordinalpos=3"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="31652152"
|
||
data-ga-label="">
|
||
|
||
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Dale DC, Dick E, Kelley M, Makaryan V, Connelly J, Bolyard AA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Dale DC, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Curr Opin Hematol. 2020 Jan;27(1):11-17. doi: 10.1097/MOH.0000000000000554.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Curr Opin Hematol. 2020.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">31652152</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="/26125015/"
|
||
ref="article_id=26125015&linksrc=citedby_articles_link&ordinalpos=4"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="26125015"
|
||
data-ga-label="">
|
||
|
||
Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Lyons JJ, Milner JD, Rosenzweig SD.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Lyons JJ, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Front Pediatr. 2015 Jun 11;3:54. doi: 10.3389/fped.2015.00054. eCollection 2015.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Front Pediatr. 2015.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">26125015</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="/37296469/"
|
||
ref="article_id=37296469&linksrc=citedby_articles_link&ordinalpos=5"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="37296469"
|
||
data-ga-label="">
|
||
|
||
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Moradian N, Zoghi S, Rayzan E, Seyedpour S, Jimenez Heredia R, Boztug K, Rezaei N.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Moradian N, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Allergy Asthma Clin Immunol. 2023.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">37296469</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=20717171"
|
||
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">
|
||
|
||
Klein C. Molecular basis of congenital neutropenia. Haematologica. 2009;94:1333–1336.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2754945/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC2754945"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/19794077/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="19794077"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Arostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, Diaz de Heredia C. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood. 2009;114:1718–1719.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/19696212/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="19696212"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360:32–43.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2778311/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC2778311"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/19118303/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="19118303"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Xia J, Bolyard AA, Rodger E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147:535–542.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2783282/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC2783282"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/19775295/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="19775295"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Arnaiz-Villena A, Karin M, Bendikuze N, et al. HLA alleles and haplotypes in the Turkish population: relatedness to Kurds, Armenians and other Mediterraneans. Tissue Antigens. 2001;57:308–317.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/11380939/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="11380939"
|
||
>
|
||
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="/20717171/references/"
|
||
data-ga-category="reference"
|
||
data-ga-action="show_more"
|
||
>
|
||
Show all 14 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't"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-publication-types-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Research Support, Non-U.S. Gov'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'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&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Research Support, Non-U.S. Gov't"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="pub_type"
|
||
data-ga-label="Research Support, Non-U.S. Gov'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'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=""Research Support, Non-U.S. Gov't"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Research Support, Non-U.S. Gov't"[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"
|
||
aria-label="Toggle dropdown menu for keyword Adolescent"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adolescent
|
||
</button><div id="keyword-actions-mesh-terms-0"
|
||
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&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adolescent%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Adolescent"[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=""Adolescent"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adolescent"[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 Adult"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adult
|
||
</button><div id="keyword-actions-mesh-terms-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword 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=%22Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="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=Adult"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="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=""Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adult"[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-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child, Preschool
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
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&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child, Preschool"[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=""Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child, Preschool"[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 Congenital Bone Marrow Failure Syndromes"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Congenital Bone Marrow Failure Syndromes
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Congenital Bone Marrow Failure Syndromes"><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=%22Congenital+Bone+Marrow+Failure+Syndromes%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Congenital+Bone+Marrow+Failure+Syndromes%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Congenital Bone Marrow Failure Syndromes"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Congenital Bone Marrow Failure Syndromes">
|
||
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=Congenital+Bone+Marrow+Failure+Syndromes"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Congenital Bone Marrow Failure Syndromes">
|
||
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=""Congenital Bone Marrow Failure Syndromes"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Congenital Bone Marrow Failure Syndromes"[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 Consanguinity"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Consanguinity
|
||
</button><div id="keyword-actions-mesh-terms-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Consanguinity"><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=%22Consanguinity%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Consanguinity%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Consanguinity"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Consanguinity">
|
||
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=Consanguinity"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Consanguinity">
|
||
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=""Consanguinity"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Consanguinity"[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 Developmental Disabilities / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Developmental Disabilities / genetics
|
||
</button><div id="keyword-actions-mesh-terms-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Developmental Disabilities / 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=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Developmental Disabilities/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Developmental Disabilities / 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=Developmental+Disabilities"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Developmental Disabilities / 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=""Developmental Disabilities/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Developmental Disabilities/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Exons / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Exons / genetics
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Exons / 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=%22Exons%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Exons%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Exons/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Exons / 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=Exons"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Exons / 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=""Exons/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Exons/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Female"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Female
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Female">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Female">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Female"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Glucose-6-Phosphatase / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Glucose-6-Phosphatase / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Glucose-6-Phosphatase / 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=%22Glucose-6-Phosphatase%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Glucose-6-Phosphatase%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Glucose-6-Phosphatase/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Glucose-6-Phosphatase / 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=Glucose-6-Phosphatase"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Glucose-6-Phosphatase / 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=""Glucose-6-Phosphatase/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Glucose-6-Phosphatase/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Glycogen Storage Disease Type I / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Glycogen Storage Disease Type I / genetics
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Glycogen Storage Disease Type I / 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=%22Glycogen+Storage+Disease+Type+I%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Glycogen+Storage+Disease+Type+I%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Glycogen Storage Disease Type I/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Glycogen Storage Disease Type I / 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=Glycogen+Storage+Disease+Type+I"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Glycogen Storage Disease Type I / 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=""Glycogen Storage Disease Type I/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Glycogen Storage Disease Type I/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Heart Defects, Congenital / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-10"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Heart Defects, Congenital / genetics
|
||
</button><div id="keyword-actions-mesh-terms-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Heart Defects, Congenital / 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=%22Heart+Defects%2C+Congenital%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Heart+Defects%2C+Congenital%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Heart Defects, Congenital/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Heart Defects, Congenital / 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=Heart+Defects%2C+Congenital"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Heart Defects, Congenital / 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=""Heart Defects, Congenital/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Heart Defects, Congenital/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Humans">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Learning Disabilities / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Learning Disabilities / genetics
|
||
</button><div id="keyword-actions-mesh-terms-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Learning Disabilities / 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=%22Learning+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Learning+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Learning Disabilities/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Learning Disabilities / 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=Learning+Disabilities"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Learning Disabilities / 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=""Learning Disabilities/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Learning Disabilities/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Male"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Male">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Male">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Male"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Mutation*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation*
|
||
</button><div id="keyword-actions-mesh-terms-major-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutation*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutation"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation"[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 Neutropenia / congenital"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-15"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Neutropenia / congenital
|
||
</button><div id="keyword-actions-mesh-terms-15"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neutropenia / congenital"><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=%22Neutropenia%2Fcongenital%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neutropenia%2Fcongenital%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Neutropenia/congenital"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Neutropenia / congenital">
|
||
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=Neutropenia"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Neutropenia / congenital">
|
||
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=""Neutropenia/congenital"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Neutropenia/congenital"[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 Neutropenia / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-16"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Neutropenia / genetics
|
||
</button><div id="keyword-actions-mesh-terms-16"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neutropenia / 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=%22Neutropenia%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neutropenia%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Neutropenia/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Neutropenia / 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=Neutropenia"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Neutropenia / 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=""Neutropenia/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Neutropenia/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Neutropenia / physiopathology"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-17"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Neutropenia / physiopathology
|
||
</button><div id="keyword-actions-mesh-terms-17"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neutropenia / physiopathology"><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=%22Neutropenia%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neutropenia%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Neutropenia/physiopathology"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Neutropenia / physiopathology">
|
||
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=Neutropenia"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Neutropenia / physiopathology">
|
||
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=""Neutropenia/physiopathology"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Neutropenia/physiopathology"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Pedigree"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-18"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Pedigree
|
||
</button><div id="keyword-actions-mesh-terms-18"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Pedigree"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Pedigree">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pedigree"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Pedigree">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Pedigree"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Phenotype"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-19"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-19"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Phenotype"><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=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Phenotype">
|
||
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=Phenotype"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Phenotype">
|
||
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=""Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Phenotype"[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 Glucose-6-Phosphatase"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Glucose-6-Phosphatase
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Glucose-6-Phosphatase"><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=%22Glucose-6-Phosphatase%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Glucose-6-Phosphatase%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Glucose-6-Phosphatase"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Glucose-6-Phosphatase">
|
||
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=%22Glucose-6-Phosphatase%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Glucose-6-Phosphatase">
|
||
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=""Glucose-6-Phosphatase"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Glucose-6-Phosphatase"[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 G6PC3 protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
G6PC3 protein, human
|
||
</button><div id="keyword-actions-substances-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword G6PC3 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=%22G6PC3+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22G6PC3+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="G6PC3 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="G6PC3 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=%22G6PC3+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="G6PC3 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=""G6PC3 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""G6PC3 protein, human"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
|
||
<h2 class="title">
|
||
Supplementary concepts
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Neutropenia, Severe Congenital, Autosomal Recessive 3"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-supplementary-concepts-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Neutropenia, Severe Congenital, Autosomal Recessive 3
|
||
</button><div id="keyword-actions-supplementary-concepts-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neutropenia, Severe Congenital, Autosomal Recessive 3"><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=%22Neutropenia%2C+Severe+Congenital%2C+Autosomal+Recessive+3%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neutropenia%2C+Severe+Congenital%2C+Autosomal+Recessive+3%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Neutropenia, Severe Congenital, Autosomal Recessive 3"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="supplementary_concept"
|
||
data-ga-label="Neutropenia, Severe Congenital, Autosomal Recessive 3">
|
||
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=Neutropenia%2C+Severe+Congenital%2C+Autosomal+Recessive+3"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="supplementary_concept_link"
|
||
data-ga-label="Neutropenia, Severe Congenital, Autosomal Recessive 3">
|
||
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=""Neutropenia, Severe Congenital, Autosomal Recessive 3"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Neutropenia, Severe Congenital, Autosomal Recessive 3"[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&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=1">
|
||
Cited in Books
|
||
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=2">
|
||
ClinVar
|
||
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=3">
|
||
Gene
|
||
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=4">
|
||
Gene (GeneRIF)
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=5">
|
||
MedGen
|
||
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=6">
|
||
MedGen (Bookshelf cited)
|
||
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=7">
|
||
OMIM (cited)
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=8">
|
||
Protein (RefSeq)
|
||
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&from_uid=20717171"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20717171&ordinalpos=1&linkpos=9">
|
||
SNP
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
|
||
<h2 class="title">
|
||
LinkOut - more resources
|
||
</h2>
|
||
|
||
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://europepmc.org/abstract/MED/20717171"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=6082&uid=20717171&db=pubmed&itool=Abstract&log$=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.2010.136"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3094&uid=20717171&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Nature Publishing Group"
|
||
>
|
||
Nature Publishing Group
|
||
</a></li><li><a
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/20717171/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3494&uid=20717171&db=pubmed&itool=Abstract&log$=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">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
|
||
href="https://www.malacards.org/card/severe_congenital_neutropenia_4"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=8598&uid=20717171&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Molecular Biology Databases"
|
||
data-ga-label="The Weizmann Institute of Science GeneCards and MalaCards databases"
|
||
>
|
||
The Weizmann Institute of Science GeneCards and MalaCards databases
|
||
</a></li></ul></li></ul>
|
||
</div>
|
||
|
||
|
||
</main>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
|
||
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
|
||
<strong class="title">Full text links</strong>
|
||
<button class="close-overlay" tabindex="3">[x]</button>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://doi.org/10.1038/ejhg.2010.136"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=20717171&db=pubmed&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="20717171"
|
||
><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/20717171/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=20717171&db=pubmed&nlmid=9302235"
|
||
title="Free full text at PubMed Central"
|
||
tabindex="2"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="20717171"
|
||
><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="brZIHJSyk3LONrGNtkgzgD4MQzxBLHOIseJNkzlUUEyiHSMD6DTBKLAqoDfNEim2">
|
||
<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%2F20717171%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%2F20717171%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%2F20717171%2F",
|
||
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/20717171/"
|
||
},
|
||
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: "/20717171/adj-nav/",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
articlePageUrl: "/20717171/",
|
||
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> |