nih-gov/pubmed.ncbi.nlm.nih.gov/24755949/index.html

5090 lines
No EOL
204 KiB
HTML
Raw Permalink Blame History

This file contains invisible Unicode characters

This file contains invisible Unicode characters that are indistinguishable to humans but may be processed differently by a computer. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

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

<!DOCTYPE html>
<html lang="en" >
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
<meta charset="UTF-8">
<meta http-equiv="X-UA-Compatible" content="IE=edge">
<!-- Mobile properties -->
<meta name="HandheldFriendly" content="True">
<meta name="MobileOptimized" content="320">
<meta name="viewport" content="width=device-width, initial-scale=1.0">
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.google-analytics.com">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
<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>Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome - 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="218000016929632500002F7EC20672A0.1.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="24755949" />
<meta name="ncbi_uid" content="24755949" />
<meta name="log_displayeduids" content="24755949" />
<meta name="log_source_db" content="pubmed,pmc" />
<meta name="log_icons_present" content="true" />
<meta name="ncbi_search_id" content="Vo_L_5ez-e6sgqxPJ6XMbw:27d662dac377960608b3d75bebe16418" />
<meta name="ncbi_adj_nav_search_id" content="QvbtibH-_bAvJVlmyrjalQ:27d662dac377960608b3d75bebe16418" />
<!-- Social meta tags for unfurling urls -->
<meta name="description" content="First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, &#x27;Larsen of Reunion Island syndrome&#x27; is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spond …"><meta name="keywords" content="pmid:24755949, PMC4266744, doi:10.1038/ejhg.2014.60, Research Support, Non-U.S. Gov&#x27;t, François Cartault, Patrick Munier, Valérie Cormier-Daire, Adolescent, Adult, Child, Facies, Female, Fluorenes, Founder Effect*, Galactosyltransferases / deficiency*, Galactosyltransferases / genetics*, Gene Frequency, Homozygote*, Humans, Hydantoins, Male, Middle Aged, Mutation*, Osteochondrodysplasias / diagnosis, Osteochondrodysplasias / genetics, Pedigree, Phenotype, Sequence Analysis, DNA, Young Adult, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/24755949/"><meta property="og:description" content="First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, &#x27;Larsen of Reunion Island syndrome&#x27; is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spond …"><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="Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/24755949/"><meta name="twitter:description" content="First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, &#x27;Larsen of Reunion Island syndrome&#x27; is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spond …"><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="Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome">
<meta name="citation_authors" content="Cartault F;Munier P;Jacquemont ML;Vellayoudom J;Doray B;Payet C;Randrianaivo H;Laville JM;Munnich A;Cormier-Daire V;">
<meta name="citation_date" content="2015 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="24755949">
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/24755949/">
<meta name="citation_volume" content="23">
<meta name="citation_issue" content="1">
<meta name="citation_doi" content="10.1038/ejhg.2014.60">
<meta name="citation_issn" content="1476-5438">
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/24755949/" />
</head>
<body >
<noscript>
<div class="no-script-banner" id="no-script-banner">
<div class="warning-message">
<div class="warning-message-text">
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
</div>
</div>
</div>
</noscript>
<div class="no-session-banner" id="no-session-banner" hidden>
<div class="warning-message">
<div class="warning-message-text">
Clipboard, Search History, and several other advanced features are temporarily unavailable.
</div>
<button class="close-banner-button"
title="Close Clipboard and Search History not available warning banner"
ref="linksrc=close_no_session_banner"
aria-controls="no-session-banner"
aria-label="Close Clipboard and Search History not available warning banner"
aria-expanded="true">
</button>
</div>
</div>
<a class="usa-skipnav" href="#article-details">
Skip to main page content
</a>
<!-- ========== BEGIN HEADER ========== -->
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button
class="usa-accordion-button usa-banner-button"
aria-expanded="false"
aria-controls="gov-banner-top"
>
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div
class="usa-banner-content usa-grid usa-accordion-content"
id="gov-banner-top"
>
<div class="usa-banner-guidance-gov usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
alt="Dot gov"
/>
<div class="usa-media_block-body">
<p>
<strong>The .gov means its official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure youre on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
alt="Https"
/>
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none"
aria-controls="account_popup">
<span class="fa fa-user" aria-hidden="true"></span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br/>
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
<!-- ========== END HEADER ========== -->
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
<input type="hidden" name="csrfmiddlewaretoken" value="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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%2F24755949%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%2F24755949%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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
</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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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: 24755949 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 24755949"/>
<input type="hidden" name="email-subject-hash" value="2fea59dbe347c2cfe6a01f5fb70c49320a71fe03e595284680dce58bf2aa89e0"/>
</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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="24755949">
<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.2014.60"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3094&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=24755949&amp;db=pubmed&amp;nlmid=9302235"
title="See full text options at Nature Publishing Group"
data-ga-category="full_text"
data-ga-action="Nature Publishing Group"
data-ga-label="24755949"
><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/24755949/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=24755949&amp;db=pubmed&amp;nlmid=9302235"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="24755949"
><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="/24755949/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/24755949/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="24755949" 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%2F24755949%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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
Choose a collection:
</label><select id="collections-action-dialog-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="collections_button"
data-ga-action="select_collection"
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="add">
Add
</button><button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="cancel">
Cancel
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
title="Open dialog with more actions to take"
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region"><button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
Display options
</div><div class="content"><div class="format-container"><span class="option-label">
Format
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
<div class="social-sharing">
<h3 class="title">
Share
</h3>
<ul class="social-sharing-links usa-unstyled-list">
<li>
<a href="http://twitter.com/intent/tweet?text=Expanding%20the%20clinical%20spectrum%20of%20B4GALT7%20deficiency%3A%20homozygous%20p.R270C%20mutation%20with%20founder%20effect%20causes%20Larse%E2%80%A6%20https%3A//pubmed.ncbi.nlm.nih.gov/24755949/"
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/24755949/"
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/24755949/"
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
title="Copy article permalink"
data-ga-category="save_share"
data-ga-action="link"
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
</div>
</div>
</div>
</li>
</ul>
</div>
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
<div class="full-view">
<h3 class="title">
Page navigation
</h3>
<ul class="items-list">
<li class="heading ">
<a href="#heading"
aria-label="navigate to Title &amp; authors section"
data-ga-category="page_nav"
data-ga-action="heading">
Title &amp; authors
</a>
</li>
<li class="abstract ">
<a href="#abstract"
aria-label="navigate to Abstract section"
data-ga-category="page_nav"
data-ga-action="abstract">
Abstract
</a>
</li>
<li class="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 &amp; 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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Eur J Hum Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Eur J Hum Genet">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Eur+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Eur J Hum Genet">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Eur J Hum Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Eur J Hum Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2015 Jan;23(1):49-53.</span>
</div>
<span class="citation-doi">
doi: 10.1038/ejhg.2014.60.
</span>
<span class="secondary-date">
Epub 2014 Apr 23.
</span>
</div>
<h1 class="heading-title">
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
</h1>
<div class="inline-authors">
<div class="authors">
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Cartault+F&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="François Cartault">François Cartault</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France [2] Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munier+P&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Patrick Munier">Patrick Munier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jacquemont+ML&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marie-Line Jacquemont">Marie-Line Jacquemont</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vellayoudom+J&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jeannine Vellayoudom">Jeannine Vellayoudom</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Doray+B&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Bérénice Doray">Bérénice Doray</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Payet+C&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christine Payet">Christine Payet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Randrianaivo+H&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hanitra Randrianaivo">Hanitra Randrianaivo</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Laville+JM&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jean-Marc Laville">Jean-Marc Laville</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Chirurgie Infantile, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#full-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munnich+A&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Arnold Munnich">Arnold Munnich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cormier-Daire+V&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Valérie Cormier-Daire">Valérie Cormier-Daire</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup></span>
</div>
</div>
</div>
<div class="short-article-details">
Affiliations
<button
class="more-details"
id="toggle-authors"
data-alt-text="Collapse"
aria-controls="expanded-authors"
aria-expanded="false"
data-pinger-ignore
data-fetch-url="/24755949/long-authors/"
data-id-prefix="">
<span class="title">
Expand
</span>
</button>
</div>
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
<div class="expanded-authors" id="full-view-expanded-authors">
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> 1] Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France [2] Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Service de Chirurgie Infantile, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.</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">24755949</strong>
</span>
</li>
<li>
<span class="identifier pmc">
<span class="id-label">
PMCID:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=PMC4266744&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4266744/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC4266744
</a>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1038/ejhg.2014.60&amp;id_type=DOI"
href="https://doi.org/10.1038/ejhg.2014.60"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1038/ejhg.2014.60
</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">
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">François Cartault</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
Eur J Hum Genet<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2015 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="/24755949/long-authors/"
data-id-prefix="">
<span class="title">Show details</span>
</button>
<div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region">
<button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog">
<span class="button-label">Display options</span>
</button>
<div class="dropdown" hidden>
<div class="title">
Display options
</div>
<div class="content">
<div class="format-container">
<span class="option-label">
Format
</span>
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="European journal of human genetics : EJHG"
tabindex="0"
aria-controls="short-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal European journal of human genetics : EJHG"
data-pinger-ignore>
Eur J Hum Genet
</button><div id="short-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal European journal of human genetics : EJHG"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Eur+J+Hum+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Eur J Hum Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Eur J Hum Genet">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Eur+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Eur J Hum Genet">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Eur J Hum Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Eur J Hum Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2015 Jan;23(1):49-53.</span>
</div>
<span class="citation-doi">
doi: 10.1038/ejhg.2014.60.
</span>
<span class="secondary-date">
Epub 2014 Apr 23.
</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=Cartault+F&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="François Cartault">François Cartault</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France [2] Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munier+P&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Patrick Munier">Patrick Munier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jacquemont+ML&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marie-Line Jacquemont">Marie-Line Jacquemont</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vellayoudom+J&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jeannine Vellayoudom">Jeannine Vellayoudom</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Doray+B&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Bérénice Doray">Bérénice Doray</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Payet+C&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christine Payet">Christine Payet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Randrianaivo+H&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hanitra Randrianaivo">Hanitra Randrianaivo</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Laville+JM&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jean-Marc Laville">Jean-Marc Laville</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Chirurgie Infantile, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munnich+A&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Arnold Munnich">Arnold Munnich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cormier-Daire+V&amp;cauthor_id=24755949"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Valérie Cormier-Daire">Valérie Cormier-Daire</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> 1] Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France [2] Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Service de Génétique, CHU-REUNION, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Service de Chirurgie Infantile, Centre Hospitalier Universitaire de la Réunion, Saint-Denis, France.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.</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">24755949</strong>
</span>
</li>
<li>
<span class="identifier pmc">
<span class="id-label">
PMCID:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=PMC4266744&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4266744/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC4266744
</a>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1038/ejhg.2014.60&amp;id_type=DOI"
href="https://doi.org/10.1038/ejhg.2014.60"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1038/ejhg.2014.60
</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="/24755949/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/24755949/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>
First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, 'Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected the samples of 22 LRS cases. After exclusion of CANT1, FLNB and CHST3 genes, an exome sequencing was performed in two affected second cousins and one unaffected sister. We identified a homozygous missense mutation in B4GALT7, NM_007255.2: c.808C&gt;T p.(Arg270Cys) named p.R270C, in the two affected cases, not present in the unaffected sister. The same homozygous mutation was subsequently identified in the remaining 20 LRS cases. Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase, required for the initiation of glycoaminoglycan side chain synthesis of proteoglycans. This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome. It further supports a common physiopathological basis involving proteoglycan synthesis in skeletal disorders with dislocations.
</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/bc76/4266744/5bbe62146fd1/ejhg201460f1.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-0"
role="button"
data-image-width="783"
data-image-height="814"
data-image-alt="Figure 1"
data-pmc-id="PMC4266744"
data-figure-id="fig1">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-0"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc76/4266744/71af01a4f7b7/ejhg201460f1.gif"
alt="Figure 1" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="783">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="814">
<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> ( <b> a </b> ) Left: the… </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> ( <b> a </b> ) Left: the female proband at 2 years of age, with… </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">(<b>a</b>) Left: the female proband at 2 years of age, with round, flattened midface, prominent forehead, circles under eyes and microstomia, right: paternal uncle at 29 years of age with very small stature (122cm) and obesity (BMI: 45.9). (<b>b</b>) Left: hand at 28 months of age with short fingers, right: X-Rays showing advanced carpal ossification (3½ years contrasting with the chronological age of 28 months), delta phalanx and proximal radioulnar synostosis. (<b>c</b>) Clinically unstable knee joint (left) confirmed by the femorotibial misalignment (right). (<b>d</b>) X-rays showing Swedish key appearance of the proximal femur (left) and radioulnar synostosis (right). (<b>e</b>) Pedigree of the family studied by exome sequencing. (<b>f</b>) Chromatograms showing the mutation in <i>B4GALT7</i> gene in control (wild type), affected (homozygous patients) and carrier (heterozygous parents) cases.</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="/31438591/"
ref="article_id=31438591&amp;linksrc=similar_articles_link&amp;ordinalpos=1"
data-ga-category="similar_article"
data-ga-action="31438591"
data-ga-label="">
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.</span>
<span class="docsum-authors short-authors">Ritelli M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631.</span>
<span class="docsum-journal-citation short-journal-citation">Genes (Basel). 2019.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">31438591</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="/38705458/"
ref="article_id=38705458&amp;linksrc=similar_articles_link&amp;ordinalpos=2"
data-ga-category="similar_article"
data-ga-action="38705458"
data-ga-label="">
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J.</span>
<span class="docsum-authors short-authors">Alessandri JL, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Eur J Med Genet. 2024 Jun;69:104940. doi: 10.1016/j.ejmg.2024.104940. Epub 2024 May 3.</span>
<span class="docsum-journal-citation short-journal-citation">Eur J Med Genet. 2024.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">38705458</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/26940150/"
ref="article_id=26940150&amp;linksrc=similar_articles_link&amp;ordinalpos=3"
data-ga-category="similar_article"
data-ga-action="26940150"
data-ga-label="">
Further defining the phenotypic spectrum of B4GALT7 mutations.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D; DDD Study; Foulds N.</span>
<span class="docsum-authors short-authors">Salter CG, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2016 Jun;170(6):1556-63. doi: 10.1002/ajmg.a.37604. Epub 2016 Mar 4.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Med Genet A. 2016.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">26940150</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/23956117/"
ref="article_id=23956117&amp;linksrc=similar_articles_link&amp;ordinalpos=4"
data-ga-category="similar_article"
data-ga-action="23956117"
data-ga-label="">
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A.</span>
<span class="docsum-authors short-authors">Guo MH, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2013 Oct;161A(10):2519-27. doi: 10.1002/ajmg.a.36128. Epub 2013 Aug 16.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Med Genet A. 2013.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">23956117</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="/30914273/"
ref="article_id=30914273&amp;linksrc=similar_articles_link&amp;ordinalpos=5"
data-ga-category="similar_article"
data-ga-action="30914273"
data-ga-label="">
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, Shinawi M.</span>
<span class="docsum-authors short-authors">Sandler-Wilson C, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Bone. 2019 Jul;124:14-21. doi: 10.1016/j.bone.2019.03.029. Epub 2019 Mar 23.</span>
<span class="docsum-journal-citation short-journal-citation">Bone. 2019.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">30914273</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=24755949"
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="/27502837/"
ref="article_id=27502837&amp;linksrc=citedby_articles_link&amp;ordinalpos=1"
data-ga-category="cited_by"
data-ga-action="27502837"
data-ga-label="">
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Maratha A, Colhoun HO, Knerr I, Coss KP, Doran P, Treacy EP.</span>
<span class="docsum-authors short-authors">Maratha A, et al.</span>
<span class="docsum-journal-citation full-journal-citation">JIMD Rep. 2017;34:33-42. doi: 10.1007/8904_2016_5. Epub 2016 Aug 9.</span>
<span class="docsum-journal-citation short-journal-citation">JIMD Rep. 2017.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">27502837</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="/31438591/"
ref="article_id=31438591&amp;linksrc=citedby_articles_link&amp;ordinalpos=2"
data-ga-category="cited_by"
data-ga-action="31438591"
data-ga-label="">
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.</span>
<span class="docsum-authors short-authors">Ritelli M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631.</span>
<span class="docsum-journal-citation short-journal-citation">Genes (Basel). 2019.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">31438591</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="/35734427/"
ref="article_id=35734427&amp;linksrc=citedby_articles_link&amp;ordinalpos=3"
data-ga-category="cited_by"
data-ga-action="35734427"
data-ga-label="">
Mutant <em>B3GALT6</em> in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Shen F, Yang Y, Zheng Y, Tu M, Zhao L, Luo Z, Fu Y, Zhu Y.</span>
<span class="docsum-authors short-authors">Shen F, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Front Genet. 2022 Jun 6;13:824445. doi: 10.3389/fgene.2022.824445. eCollection 2022.</span>
<span class="docsum-journal-citation short-journal-citation">Front Genet. 2022.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">35734427</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="/26582078/"
ref="article_id=26582078&amp;linksrc=citedby_articles_link&amp;ordinalpos=4"
data-ga-category="cited_by"
data-ga-action="26582078"
data-ga-label="">
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Mizumoto S, Yamada S, Sugahara K.</span>
<span class="docsum-authors short-authors">Mizumoto S, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Biomed Res Int. 2015;2015:861752. doi: 10.1155/2015/861752. Epub 2015 Oct 25.</span>
<span class="docsum-journal-citation short-journal-citation">Biomed Res Int. 2015.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">26582078</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="/29318063/"
ref="article_id=29318063&amp;linksrc=citedby_articles_link&amp;ordinalpos=5"
data-ga-category="cited_by"
data-ga-action="29318063"
data-ga-label="">
Novel Splicing Mutation in <em>B3GAT3</em> Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Bloor S, Giri D, Didi M, Senniappan S.</span>
<span class="docsum-authors short-authors">Bloor S, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Case Rep Genet. 2017;2017:3941483. doi: 10.1155/2017/3941483. Epub 2017 Nov 28.</span>
<span class="docsum-journal-citation short-journal-citation">Case Rep Genet. 2017.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29318063</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=24755949"
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">
Payet G. Nanisme et hyperlaxité dysmorphie faciale et luxations multiples: syndrome de Larsen. Arch Fr Pediatr. 1975;32:601608.
-
<a
class="reference-link"
href="/1221956/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="1221956"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Laville JM, Lakermance P, Limouzy F. Larsen's syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop. 1994;14:6367.
-
<a
class="reference-link"
href="/8113375/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="8113375"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Warman ML, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A:943968.
-
<a
class="reference-link"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3166781/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="PMC3166781"
>
PMC
</a>
-
<a
class="reference-link"
href="/21438135/"
ref="linksrc=references_link&amp;ordinalpos=2"
data-ga-category="reference"
data-ga-action="21438135"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Larsen LJ, Schottstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr. 1950;37:574581.
-
<a
class="reference-link"
href="/14779259/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="14779259"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Harris R, Cullen CH. Autosomal dominant inheritance in Larsen's syndrome. Clin Genet. 1971;2:8790.
-
<a
class="reference-link"
href="/5116594/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="5116594"
>
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="/24755949/references/"
data-ga-category="reference"
data-ga-action="show_more"
>
Show all 28 references
</button>
</div>
</div>
</div>
</div>
<div id="publication-types" class="publication-types keywords-section">
<h2 class="title">
Publication types
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Research Support, Non-U.S. Gov&#x27;t"
tabindex="0"
aria-controls="keyword-actions-publication-types-0"
aria-expanded="false"
data-pinger-ignore>
Research Support, Non-U.S. Gov&#x27;t
</button><div id="keyword-actions-publication-types-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Research Support, Non-U.S. Gov&#x27;t"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="pub_type"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Research+Support%2C+Non-U.S.+Gov%27t"
data-ga-category="search_mesh"
data-ga-action="pub_type_link"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="mesh-terms" class="mesh-terms keywords-section">
<h2 class="title">
MeSH terms
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adolescent%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Adolescent&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Adolescent">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Adolescent"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Adolescent">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Adolescent&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adolescent&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Adult%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Adult&quot;[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="&quot;Adult&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Adult&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Child"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-2"
aria-expanded="false"
data-pinger-ignore>
Child
</button><div id="keyword-actions-mesh-terms-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Child%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Child%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Child&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Child">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Child">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Child&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Child&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Facies"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-3"
aria-expanded="false"
data-pinger-ignore>
Facies
</button><div id="keyword-actions-mesh-terms-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Facies"><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=%22Facies%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Facies%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Facies&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Facies">
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=Facies"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Facies">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Facies&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Facies&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Female"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-4"
aria-expanded="false"
data-pinger-ignore>
Female
</button><div id="keyword-actions-mesh-terms-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Female%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Female%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Female&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Female">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Female">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Female&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Female&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Fluorenes"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-5"
aria-expanded="false"
data-pinger-ignore>
Fluorenes
</button><div id="keyword-actions-mesh-terms-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Fluorenes"><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=%22Fluorenes%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Fluorenes%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Fluorenes&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Fluorenes">
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=Fluorenes"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Fluorenes">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Fluorenes&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Fluorenes&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Founder Effect*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-6"
aria-expanded="false"
data-pinger-ignore>
Founder Effect*
</button><div id="keyword-actions-mesh-terms-major-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Founder Effect*"><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=%22Founder+Effect%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Founder+Effect%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Founder Effect&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Founder Effect*">
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=Founder+Effect"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Founder Effect*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Founder Effect&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Founder Effect&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Galactosyltransferases / deficiency*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-7"
aria-expanded="false"
data-pinger-ignore>
Galactosyltransferases / deficiency*
</button><div id="keyword-actions-mesh-terms-major-7"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Galactosyltransferases / deficiency*"><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=%22Galactosyltransferases%2Fdeficiency%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Galactosyltransferases%2Fdeficiency%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Galactosyltransferases/deficiency&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Galactosyltransferases / deficiency*">
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=Galactosyltransferases"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Galactosyltransferases / deficiency*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Galactosyltransferases/deficiency&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Galactosyltransferases/deficiency&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Galactosyltransferases / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-8"
aria-expanded="false"
data-pinger-ignore>
Galactosyltransferases / genetics*
</button><div id="keyword-actions-mesh-terms-major-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Galactosyltransferases / 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=%22Galactosyltransferases%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Galactosyltransferases%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Galactosyltransferases/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Galactosyltransferases / 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=Galactosyltransferases"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Galactosyltransferases / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Galactosyltransferases/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Galactosyltransferases/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Gene Frequency"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-9"
aria-expanded="false"
data-pinger-ignore>
Gene Frequency
</button><div id="keyword-actions-mesh-terms-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Gene Frequency"><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=%22Gene+Frequency%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Gene+Frequency%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Gene Frequency&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Gene Frequency">
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=Gene+Frequency"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Gene Frequency">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Gene Frequency&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Gene Frequency&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Homozygote*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-10"
aria-expanded="false"
data-pinger-ignore>
Homozygote*
</button><div id="keyword-actions-mesh-terms-major-10"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Homozygote*"><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=%22Homozygote%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Homozygote%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Homozygote&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Homozygote*">
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=Homozygote"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Homozygote*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Homozygote&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Homozygote&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword 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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Humans">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Humans">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Humans&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Hydantoins"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-12"
aria-expanded="false"
data-pinger-ignore>
Hydantoins
</button><div id="keyword-actions-mesh-terms-12"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Hydantoins"><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=%22Hydantoins%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hydantoins%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Hydantoins&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Hydantoins">
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=Hydantoins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Hydantoins">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Hydantoins&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Hydantoins&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword 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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Male%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Male&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Male">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Male">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Male&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Male&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Middle Aged"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-14"
aria-expanded="false"
data-pinger-ignore>
Middle Aged
</button><div id="keyword-actions-mesh-terms-14"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Middle Aged"><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=%22Middle+Aged%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Middle+Aged%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Middle Aged&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Middle Aged">
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=Middle+Aged"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Middle Aged">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Middle Aged&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Middle Aged&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mutation*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-15"
aria-expanded="false"
data-pinger-ignore>
Mutation*
</button><div id="keyword-actions-mesh-terms-major-15"
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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mutation%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutation&quot;[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="&quot;Mutation&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mutation&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Osteochondrodysplasias / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-16"
aria-expanded="false"
data-pinger-ignore>
Osteochondrodysplasias / diagnosis
</button><div id="keyword-actions-mesh-terms-16"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Osteochondrodysplasias / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Osteochondrodysplasias%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Osteochondrodysplasias%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Osteochondrodysplasias/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Osteochondrodysplasias / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Osteochondrodysplasias"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Osteochondrodysplasias / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Osteochondrodysplasias/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Osteochondrodysplasias/diagnosis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Osteochondrodysplasias / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-17"
aria-expanded="false"
data-pinger-ignore>
Osteochondrodysplasias / genetics
</button><div id="keyword-actions-mesh-terms-17"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Osteochondrodysplasias / 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=%22Osteochondrodysplasias%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Osteochondrodysplasias%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Osteochondrodysplasias/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Osteochondrodysplasias / 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=Osteochondrodysplasias"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Osteochondrodysplasias / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Osteochondrodysplasias/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Osteochondrodysplasias/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword 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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Pedigree%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Pedigree&quot;[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="&quot;Pedigree&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Pedigree&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword 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&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Phenotype%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Phenotype&quot;[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="&quot;Phenotype&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Phenotype&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Sequence Analysis, DNA"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-20"
aria-expanded="false"
data-pinger-ignore>
Sequence Analysis, DNA
</button><div id="keyword-actions-mesh-terms-20"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Sequence Analysis, DNA"><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=%22Sequence+Analysis%2C+DNA%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Sequence+Analysis%2C+DNA%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Sequence Analysis, DNA&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Sequence Analysis, DNA">
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=Sequence+Analysis%2C+DNA"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Sequence Analysis, DNA">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Sequence Analysis, DNA&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Sequence Analysis, DNA&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Young Adult"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-21"
aria-expanded="false"
data-pinger-ignore>
Young Adult
</button><div id="keyword-actions-mesh-terms-21"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Young Adult"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Young+Adult%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Young+Adult%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Young Adult&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Young Adult">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Young+Adult"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Young Adult">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Young Adult&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Young Adult&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="substances" class="substances keywords-section">
<h2 class="title">
Substances
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Fluorenes"
tabindex="0"
aria-controls="keyword-actions-substances-0"
aria-expanded="false"
data-pinger-ignore>
Fluorenes
</button><div id="keyword-actions-substances-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Fluorenes"><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=%22Fluorenes%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Fluorenes%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Fluorenes&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Fluorenes">
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=%22Fluorenes%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Fluorenes">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Fluorenes&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Fluorenes&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Hydantoins"
tabindex="0"
aria-controls="keyword-actions-substances-1"
aria-expanded="false"
data-pinger-ignore>
Hydantoins
</button><div id="keyword-actions-substances-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Hydantoins"><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=%22Hydantoins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hydantoins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Hydantoins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Hydantoins">
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=%22Hydantoins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Hydantoins">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Hydantoins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Hydantoins&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword alconil"
tabindex="0"
aria-controls="keyword-actions-substances-2"
aria-expanded="false"
data-pinger-ignore>
alconil
</button><div id="keyword-actions-substances-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword alconil"><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=%22alconil%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22alconil%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;alconil&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="alconil">
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=%22alconil%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="alconil">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;alconil&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;alconil&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Galactosyltransferases"
tabindex="0"
aria-controls="keyword-actions-substances-3"
aria-expanded="false"
data-pinger-ignore>
Galactosyltransferases
</button><div id="keyword-actions-substances-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Galactosyltransferases"><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=%22Galactosyltransferases%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Galactosyltransferases%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Galactosyltransferases&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Galactosyltransferases">
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=%22Galactosyltransferases%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Galactosyltransferases">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Galactosyltransferases&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Galactosyltransferases&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword xylosylprotein 4-beta-galactosyltransferase"
tabindex="0"
aria-controls="keyword-actions-substances-4"
aria-expanded="false"
data-pinger-ignore>
xylosylprotein 4-beta-galactosyltransferase
</button><div id="keyword-actions-substances-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword xylosylprotein 4-beta-galactosyltransferase"><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=%22xylosylprotein+4-beta-galactosyltransferase%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22xylosylprotein+4-beta-galactosyltransferase%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;xylosylprotein 4-beta-galactosyltransferase&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="xylosylprotein 4-beta-galactosyltransferase">
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=%22xylosylprotein+4-beta-galactosyltransferase%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="xylosylprotein 4-beta-galactosyltransferase">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;xylosylprotein 4-beta-galactosyltransferase&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;xylosylprotein 4-beta-galactosyltransferase&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
<h2 class="title">
Supplementary concepts
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Larsen Syndrome"
tabindex="0"
aria-controls="keyword-actions-supplementary-concepts-0"
aria-expanded="false"
data-pinger-ignore>
Larsen Syndrome
</button><div id="keyword-actions-supplementary-concepts-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Larsen Syndrome"><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=%22Larsen+Syndrome%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Larsen+Syndrome%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Larsen Syndrome&quot;[nm]"
data-ga-category="search"
data-ga-action="supplementary_concept"
data-ga-label="Larsen Syndrome">
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=Larsen+Syndrome"
data-ga-category="search_mesh"
data-ga-action="supplementary_concept_link"
data-ga-label="Larsen Syndrome">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Larsen Syndrome&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Larsen Syndrome&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=1">
Cited in Books
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&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&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=3">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&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&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=5">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&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&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=7">
OMIM (cited)
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=8">
Protein (RefSeq)
</a></li><li><a title="Related PubChem Compound via MeSH" href="https://www.ncbi.nlm.nih.gov/pccompound?linkname=pubmed_pccompound_mesh&amp;from_uid=24755949"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24755949&ordinalpos=1&linkpos=9">
PubChem Compound (MeSH Keyword)
</a></li></ul>
</div>
<div id="linkout" class="linkout">
<h2 class="title">
LinkOut - more resources
</h2>
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
href="https://europepmc.org/abstract/MED/24755949"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=6082&uid=24755949&db=pubmed&itool=Abstract&log$=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.2014.60"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3094&uid=24755949&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Nature Publishing Group"
>
Nature Publishing Group
</a></li><li><a
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/24755949/"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3494&uid=24755949&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="PubMed Central"
>
PubMed Central
</a></li></ul></li><li><h3 class="linkout-category">Other Literature Sources</h3><ul class="linkout-category-links"><li><a
href="https://scite.ai/reports/24755949"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=10307&uid=24755949&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Other Literature Sources"
data-ga-label="scite Smart Citations"
>
scite Smart Citations
</a></li></ul></li><li><h3 class="linkout-category">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
href="https://www.malacards.org/card/desbuquois_dysplasia"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=8598&uid=24755949&db=pubmed&itool=Abstract&log$=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><li><h3 class="linkout-category">Miscellaneous</h3><ul class="linkout-category-links"><li><a
href="https://assays.cancer.gov/CPTAC-511"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=8855&uid=24755949&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
data-ga-category="link_out"
data-ga-action="Miscellaneous"
data-ga-label="NCI CPTAC Assay Portal"
>
NCI CPTAC Assay Portal
</a></li></ul></li></ul>
</div>
</main>
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
<strong class="title">Full text links</strong>
<button class="close-overlay" tabindex="3">[x]</button>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1038/ejhg.2014.60"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3094&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=24755949&amp;db=pubmed&amp;nlmid=9302235"
title="See full text options at Nature Publishing Group"
tabindex="1"
data-ga-category="full_text"
data-ga-action="Nature Publishing Group"
data-ga-label="24755949"
><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/24755949/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=24755949&amp;db=pubmed&amp;nlmid=9302235"
title="Free full text at PubMed Central"
tabindex="2"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="24755949"
><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="FePFJrPlvLexmJxfHbfHlzdIcvKjoj4mW1zKmhiH5m11gaD5kuSJPHJmKzsvhUCG">
<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%2F24755949%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%2F24755949%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%2F24755949%2F",
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/24755949/"
},
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: "/24755949/adj-nav/",
adjNavSearchIdCookieName: "pm-adjnav-sid",
articlePageUrl: "/24755949/",
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>