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data-by-search-method="post"
data-by-ids-method="post"
method="post"
>
<input type="hidden" name="csrfmiddlewaretoken" value="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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: 31834374 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 31834374"/>
<input type="hidden" name="email-subject-hash" value="d294f3a327001343964e6a9e7cec5bde2bb34a6e74a40793ba1b775b358a624f"/>
</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="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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="XBV1Np3GVYmss5L0ZG9ck06L6TwDxPmjeoF6qfw2vz9WmwRQCZMeO8CpEXePqqUD">
<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="31834374">
<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://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awz379"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=7898&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=31834374&amp;db=pubmed&amp;nlmid=0372537"
title="See full text options at Silverchair Information Systems"
data-ga-category="full_text"
data-ga-action="Silverchair Information Systems"
data-ga-label="31834374"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--academic.oup.com-images-oup_pubmed.png" alt="Silverchair Information Systems full text link"><span class="text">
Silverchair Information Systems
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/31834374/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=31834374&amp;db=pubmed&amp;nlmid=0372537"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="31834374"
><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="/31834374/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/31834374/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="31834374" 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%2F31834374%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/"
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<h1 class="heading-title">
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
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1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Eric G Bend">Eric G Bend</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Greenwood Genetic Center, Greenwood, SC, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
21
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="PreventionGenetics, Marshfield, WI, USA." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Francesca Filippini">Francesca Filippini</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Chelsea Roadhouse">Chelsea Roadhouse</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="McMaster University Medical Center, Hamilton, Ontario, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nicolas Lebrun">Nicolas Lebrun</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Michele G Mehaffey">Michele G Mehaffey</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." 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=Martin+PM&amp;cauthor_id=31834374"
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data-ga-label="Pierre-Marie Martin">Pierre-Marie Martin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
24
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Benjamin Apple">Benjamin Apple</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff">
9
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Francisca Millan">Francisca Millan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Oliver Puk">Oliver Puk</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Praxis für Humangenetik Tübingen, Tübingen, Germany." href="#full-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Mariette J V Hoffer">Mariette J V Hoffer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands." href="#full-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ruth McGowan">Ruth McGowan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK." href="#full-view-affiliation-11" ref="linksrc=author_aff">
11
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ingrid M Wentzensen">Ingrid M Wentzensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Steven Pei">Steven Pei</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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=Zahir+FR&amp;cauthor_id=31834374"
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data-ga-label="Farah R Zahir">Farah R Zahir</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Mullin Yu">Mullin Yu</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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=Gibson+WT&amp;cauthor_id=31834374"
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data-ga-label="William T Gibson">William T Gibson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Seman+A&amp;cauthor_id=31834374"
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data-ga-label="Ann Seman">Ann Seman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children&#x27;s Hospital, Boston, MA, USA." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Steeves+M&amp;cauthor_id=31834374"
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data-ga-label="Marcie Steeves">Marcie Steeves</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA." 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=Murrell+JR&amp;cauthor_id=31834374"
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data-ga-label="Jill R Murrell">Jill R Murrell</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Luettgen+S&amp;cauthor_id=31834374"
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data-ga-label="Sabine Luettgen">Sabine Luettgen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Francisco+E&amp;cauthor_id=31834374"
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data-ga-label="Elizabeth Francisco">Elizabeth Francisco</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="eviCore healthcare, Bluffton, SC, USA." href="#full-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Strom+TM&amp;cauthor_id=31834374"
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data-ga-label="Tim M Strom">Tim M Strom</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München, Munich, Germany." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Amlie-Wolf+L&amp;cauthor_id=31834374"
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data-ga-label="Louise Amlie-Wolf">Louise Amlie-Wolf</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA." href="#full-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kaindl+AM&amp;cauthor_id=31834374"
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data-ga-label="Angela M Kaindl">Angela M Kaindl</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany." href="#full-view-affiliation-34" ref="linksrc=author_aff">
34
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Berlin Institute of Health (BIH), Berlin, Germany." href="#full-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wilson+WG&amp;cauthor_id=31834374"
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data-ga-label="William G Wilson">William G Wilson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
16
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Halbach+S&amp;cauthor_id=31834374"
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data-ga-label="Sara Halbach">Sara Halbach</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Chicago, Chicago, IL, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Basel-Salmon+L&amp;cauthor_id=31834374"
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data-ga-label="Lina Basel-Salmon">Lina Basel-Salmon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel." href="#full-view-affiliation-37" ref="linksrc=author_aff">
37
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Genetics Clinic, Schneider Children&#x27;s Medical Center of Israel, Petach Tikva, Israel." href="#full-view-affiliation-38" ref="linksrc=author_aff">
38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel." href="#full-view-affiliation-39" ref="linksrc=author_aff">
39
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Felsenstein Medical Research Center, Petach Tikva, Israel." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lev-El+N&amp;cauthor_id=31834374"
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data-ga-label="Noa Lev-El">Noa Lev-El</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel." href="#full-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Denecke+J&amp;cauthor_id=31834374"
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data-ga-label="Jonas Denecke">Jonas Denecke</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany." href="#full-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vissers+LELM&amp;cauthor_id=31834374"
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data-ga-label="Lisenka E L M Vissers">Lisenka E L M Vissers</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands." href="#full-view-affiliation-42" ref="linksrc=author_aff">
42
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Radtke+K&amp;cauthor_id=31834374"
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data-ga-label="Kelly Radtke">Kelly Radtke</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chelly+J&amp;cauthor_id=31834374"
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data-ga-label="Jamel Chelly">Jamel Chelly</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France." href="#full-view-affiliation-44" ref="linksrc=author_aff">
44
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France." href="#full-view-affiliation-45" ref="linksrc=author_aff">
45
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France." href="#full-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zackai+E&amp;cauthor_id=31834374"
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data-ga-label="Elaine Zackai">Elaine Zackai</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA." href="#full-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Friedman+JM&amp;cauthor_id=31834374"
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data-ga-label="Jan M Friedman">Jan M Friedman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bamshad+MJ&amp;cauthor_id=31834374"
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2
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-48" ref="linksrc=author_aff">
48
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Washington Center for Mendelian Genomics, Seattle, WA, USA." href="#full-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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48
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Washington Center for Mendelian Genomics, Seattle, WA, USA." href="#full-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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50
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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51
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Zöe Powis">Zöe Powis</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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23
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France." href="#full-view-affiliation-53" ref="linksrc=author_aff">
53
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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54
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel." href="#full-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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2
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-55" ref="linksrc=author_aff">
55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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24
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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18
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea." href="#full-view-affiliation-52" ref="linksrc=author_aff">
52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#full-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#full-view-affiliation-57" ref="linksrc=author_aff">
57
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France." href="#full-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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60
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Jeanne Amiel">Jeanne Amiel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#full-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Brian H Y Chung">Brian H Y Chung</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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"
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data-ga-label="Christopher T Gordon">Christopher T Gordon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
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<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-7"
id="full-view-affiliation-7"
><sup class="key">7</sup> GeneDx, Gaithersburg, MD, USA.</li>
<li data-affiliation-id="full-view-affiliation-8"
id="full-view-affiliation-8"
><sup class="key">8</sup> Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-9"
id="full-view-affiliation-9"
><sup class="key">9</sup> Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</li>
<li data-affiliation-id="full-view-affiliation-12"
id="full-view-affiliation-12"
><sup class="key">12</sup> McMaster University Medical Center, Hamilton, Ontario, Canada.</li>
<li data-affiliation-id="full-view-affiliation-13"
id="full-view-affiliation-13"
><sup class="key">13</sup> Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.</li>
<li data-affiliation-id="full-view-affiliation-14"
id="full-view-affiliation-14"
><sup class="key">14</sup> Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children&#x27;s Hospital, Little Rock, AR, USA.</li>
<li data-affiliation-id="full-view-affiliation-15"
id="full-view-affiliation-15"
><sup class="key">15</sup> Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.</li>
<li data-affiliation-id="full-view-affiliation-16"
id="full-view-affiliation-16"
><sup class="key">16</sup> Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.</li>
<li data-affiliation-id="full-view-affiliation-17"
id="full-view-affiliation-17"
><sup class="key">17</sup> Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-18"
id="full-view-affiliation-18"
><sup class="key">18</sup> Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.</li>
<li data-affiliation-id="full-view-affiliation-19"
id="full-view-affiliation-19"
><sup class="key">19</sup> Department of Radiology, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-20"
id="full-view-affiliation-20"
><sup class="key">20</sup> Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-21"
id="full-view-affiliation-21"
><sup class="key">21</sup> Greenwood Genetic Center, Greenwood, SC, USA.</li>
<li data-affiliation-id="full-view-affiliation-22"
id="full-view-affiliation-22"
><sup class="key">22</sup> PreventionGenetics, Marshfield, WI, USA.</li>
<li data-affiliation-id="full-view-affiliation-23"
id="full-view-affiliation-23"
><sup class="key">23</sup> Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-24"
id="full-view-affiliation-24"
><sup class="key">24</sup> Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-25"
id="full-view-affiliation-25"
><sup class="key">25</sup> Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-26"
id="full-view-affiliation-26"
><sup class="key">26</sup> Praxis für Humangenetik Tübingen, Tübingen, Germany.</li>
<li data-affiliation-id="full-view-affiliation-27"
id="full-view-affiliation-27"
><sup class="key">27</sup> Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</li>
<li data-affiliation-id="full-view-affiliation-28"
id="full-view-affiliation-28"
><sup class="key">28</sup> Division of Genetics and Genomics, Boston Children&#x27;s Hospital, Boston, MA, USA.</li>
<li data-affiliation-id="full-view-affiliation-29"
id="full-view-affiliation-29"
><sup class="key">29</sup> Division of Genomic Diagnostics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-30"
id="full-view-affiliation-30"
><sup class="key">30</sup> eviCore healthcare, Bluffton, SC, USA.</li>
<li data-affiliation-id="full-view-affiliation-31"
id="full-view-affiliation-31"
><sup class="key">31</sup> Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.</li>
<li data-affiliation-id="full-view-affiliation-32"
id="full-view-affiliation-32"
><sup class="key">32</sup> Institute of Human Genetics, Technische Universität München, Munich, Germany.</li>
<li data-affiliation-id="full-view-affiliation-33"
id="full-view-affiliation-33"
><sup class="key">33</sup> Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.</li>
<li data-affiliation-id="full-view-affiliation-34"
id="full-view-affiliation-34"
><sup class="key">34</sup> Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.</li>
<li data-affiliation-id="full-view-affiliation-35"
id="full-view-affiliation-35"
><sup class="key">35</sup> Berlin Institute of Health (BIH), Berlin, Germany.</li>
<li data-affiliation-id="full-view-affiliation-36"
id="full-view-affiliation-36"
><sup class="key">36</sup> Department of Human Genetics, University of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="full-view-affiliation-37"
id="full-view-affiliation-37"
><sup class="key">37</sup> Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.</li>
<li data-affiliation-id="full-view-affiliation-38"
id="full-view-affiliation-38"
><sup class="key">38</sup> Pediatric Genetics Clinic, Schneider Children&#x27;s Medical Center of Israel, Petach Tikva, Israel.</li>
<li data-affiliation-id="full-view-affiliation-39"
id="full-view-affiliation-39"
><sup class="key">39</sup> Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</li>
<li data-affiliation-id="full-view-affiliation-40"
id="full-view-affiliation-40"
><sup class="key">40</sup> Felsenstein Medical Research Center, Petach Tikva, Israel.</li>
<li data-affiliation-id="full-view-affiliation-41"
id="full-view-affiliation-41"
><sup class="key">41</sup> Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</li>
<li data-affiliation-id="full-view-affiliation-42"
id="full-view-affiliation-42"
><sup class="key">42</sup> Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-43"
id="full-view-affiliation-43"
><sup class="key">43</sup> Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-44"
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><sup class="key">44</sup> Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-45"
id="full-view-affiliation-45"
><sup class="key">45</sup> Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-46"
id="full-view-affiliation-46"
><sup class="key">46</sup> Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.</li>
<li data-affiliation-id="full-view-affiliation-47"
id="full-view-affiliation-47"
><sup class="key">47</sup> Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-48"
id="full-view-affiliation-48"
><sup class="key">48</sup> Department of Genome Sciences, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-49"
id="full-view-affiliation-49"
><sup class="key">49</sup> University of Washington Center for Mendelian Genomics, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-50"
id="full-view-affiliation-50"
><sup class="key">50</sup> Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="full-view-affiliation-51"
id="full-view-affiliation-51"
><sup class="key">51</sup> Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.</li>
<li data-affiliation-id="full-view-affiliation-52"
id="full-view-affiliation-52"
><sup class="key">52</sup> Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.</li>
<li data-affiliation-id="full-view-affiliation-53"
id="full-view-affiliation-53"
><sup class="key">53</sup> Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-54"
id="full-view-affiliation-54"
><sup class="key">54</sup> Victorian Clinical Genetics Services, Murdoch Children&#x27;s Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.</li>
<li data-affiliation-id="full-view-affiliation-55"
id="full-view-affiliation-55"
><sup class="key">55</sup> Department of Neurology, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-56"
id="full-view-affiliation-56"
><sup class="key">56</sup> Sheffield Clinical Genetics Service, Sheffield Children&#x27;s Hospital, Sheffield S10 2TH, UK.</li>
<li data-affiliation-id="full-view-affiliation-57"
id="full-view-affiliation-57"
><sup class="key">57</sup> Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-58"
id="full-view-affiliation-58"
><sup class="key">58</sup> Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-59"
id="full-view-affiliation-59"
><sup class="key">59</sup> Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.</li>
<li data-affiliation-id="full-view-affiliation-60"
id="full-view-affiliation-60"
><sup class="key">60</sup> Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.</li>
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
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<span class="authors-list-item "><span class="full-name">Christopher C Y Mak</span><span class="citation-separator">&nbsp;et al.</span></span>
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<span class="authors-list-item "><a class="full-name"
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data-ga-label="Christopher C Y Mak">Christopher C Y Mak</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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"
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data-ga-label="Dan Doherty">Dan Doherty</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." 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"
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data-ga-label="Angela E Lin">Angela E Lin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nancy Vegas">Nancy Vegas</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Megan T Cho">Megan T Cho</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Géraldine Viot">Géraldine Viot</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France." href="#short-view-affiliation-8" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="James D Weisfeld-Adams">James D Weisfeld-Adams</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff">
9
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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11
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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13
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Yuri A Zarate">Yuri A Zarate</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children&#x27;s Hospital, Little Rock, AR, USA." href="#short-view-affiliation-14" ref="linksrc=author_aff">
14
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nadja Ehmke">Nadja Ehmke</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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15
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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16
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sarina G Kant">Sarina G Kant</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Youngha Lee">Youngha Lee</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea." href="#short-view-affiliation-18" ref="linksrc=author_aff">
18
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Gisele E Ishak">Gisele E Ishak</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Radiology, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
19
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Gordon Leung">Gordon Leung</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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"
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data-ga-label="Amanda Barone Pritchard">Amanda Barone Pritchard</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sandra Yang">Sandra Yang</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bend+EG&amp;cauthor_id=31834374"
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data-ga-label="Eric G Bend">Eric G Bend</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Greenwood Genetic Center, Greenwood, SC, USA." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="PreventionGenetics, Marshfield, WI, USA." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Filippini+F&amp;cauthor_id=31834374"
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data-ga-label="Francesca Filippini">Francesca Filippini</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Chelsea Roadhouse">Chelsea Roadhouse</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="McMaster University Medical Center, Hamilton, Ontario, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nicolas Lebrun">Nicolas Lebrun</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Michele G Mehaffey">Michele G Mehaffey</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." 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=Martin+PM&amp;cauthor_id=31834374"
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data-ga-label="Pierre-Marie Martin">Pierre-Marie Martin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA." href="#short-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Apple+B&amp;cauthor_id=31834374"
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data-ga-label="Benjamin Apple">Benjamin Apple</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff">
9
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Millan+F&amp;cauthor_id=31834374"
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data-ga-label="Francisca Millan">Francisca Millan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Puk+O&amp;cauthor_id=31834374"
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data-ga-label="Oliver Puk">Oliver Puk</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Praxis für Humangenetik Tübingen, Tübingen, Germany." href="#short-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hoffer+MJV&amp;cauthor_id=31834374"
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data-ga-label="Mariette J V Hoffer">Mariette J V Hoffer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Henderson+LB&amp;cauthor_id=31834374"
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data-ga-label="Lindsay B Henderson">Lindsay B Henderson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McGowan+R&amp;cauthor_id=31834374"
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data-ga-label="Ruth McGowan">Ruth McGowan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK." href="#short-view-affiliation-11" ref="linksrc=author_aff">
11
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wentzensen+IM&amp;cauthor_id=31834374"
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data-ga-label="Ingrid M Wentzensen">Ingrid M Wentzensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pei+S&amp;cauthor_id=31834374"
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data-ga-label="Steven Pei">Steven Pei</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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=Zahir+FR&amp;cauthor_id=31834374"
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data-ga-label="Farah R Zahir">Farah R Zahir</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Yu+M&amp;cauthor_id=31834374"
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data-ga-label="Mullin Yu">Mullin Yu</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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=Gibson+WT&amp;cauthor_id=31834374"
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data-ga-label="William T Gibson">William T Gibson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Seman+A&amp;cauthor_id=31834374"
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data-ga-label="Ann Seman">Ann Seman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children&#x27;s Hospital, Boston, MA, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Steeves+M&amp;cauthor_id=31834374"
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data-ga-label="Marcie Steeves">Marcie Steeves</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA." 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=Murrell+JR&amp;cauthor_id=31834374"
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data-ga-label="Jill R Murrell">Jill R Murrell</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Luettgen+S&amp;cauthor_id=31834374"
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data-ga-label="Sabine Luettgen">Sabine Luettgen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Francisco+E&amp;cauthor_id=31834374"
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data-ga-label="Elizabeth Francisco">Elizabeth Francisco</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="eviCore healthcare, Bluffton, SC, USA." href="#short-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Strom+TM&amp;cauthor_id=31834374"
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data-ga-label="Tim M Strom">Tim M Strom</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München, Munich, Germany." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Amlie-Wolf+L&amp;cauthor_id=31834374"
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data-ga-label="Louise Amlie-Wolf">Louise Amlie-Wolf</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA." href="#short-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kaindl+AM&amp;cauthor_id=31834374"
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data-ga-label="Angela M Kaindl">Angela M Kaindl</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Berlin Institute of Health (BIH), Berlin, Germany." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wilson+WG&amp;cauthor_id=31834374"
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data-ga-label="William G Wilson">William G Wilson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA." href="#short-view-affiliation-16" ref="linksrc=author_aff">
16
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Halbach+S&amp;cauthor_id=31834374"
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data-ga-label="Sara Halbach">Sara Halbach</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Chicago, Chicago, IL, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Basel-Salmon+L&amp;cauthor_id=31834374"
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data-ga-label="Lina Basel-Salmon">Lina Basel-Salmon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Genetics Clinic, Schneider Children&#x27;s Medical Center of Israel, Petach Tikva, Israel." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel." href="#short-view-affiliation-39" ref="linksrc=author_aff">
39
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Felsenstein Medical Research Center, Petach Tikva, Israel." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lev-El+N&amp;cauthor_id=31834374"
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data-ga-label="Noa Lev-El">Noa Lev-El</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Denecke+J&amp;cauthor_id=31834374"
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data-ga-label="Jonas Denecke">Jonas Denecke</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany." href="#short-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vissers+LELM&amp;cauthor_id=31834374"
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data-ga-label="Lisenka E L M Vissers">Lisenka E L M Vissers</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands." href="#short-view-affiliation-42" ref="linksrc=author_aff">
42
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Radtke+K&amp;cauthor_id=31834374"
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data-ga-label="Kelly Radtke">Kelly Radtke</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chelly+J&amp;cauthor_id=31834374"
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data-ga-label="Jamel Chelly">Jamel Chelly</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France." href="#short-view-affiliation-44" ref="linksrc=author_aff">
44
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France." href="#short-view-affiliation-45" ref="linksrc=author_aff">
45
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France." href="#short-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zackai+E&amp;cauthor_id=31834374"
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data-ga-label="Elaine Zackai">Elaine Zackai</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA." href="#short-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Friedman+JM&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Jan M Friedman">Jan M Friedman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bamshad+MJ&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Michael J Bamshad">Michael J Bamshad</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-48" ref="linksrc=author_aff">
48
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Washington Center for Mendelian Genomics, Seattle, WA, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nickerson+DA&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Deborah A Nickerson">Deborah A Nickerson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-48" ref="linksrc=author_aff">
48
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Washington Center for Mendelian Genomics, Seattle, WA, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=University+of+Washington+Center+for+Mendelian+Genomics%5BCorporate+Author%5D"
ref="linksrc=author_name_link"
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data-ga-label="University of Washington Center for Mendelian Genomics">University of Washington Center for Mendelian Genomics</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Reid+RR&amp;cauthor_id=31834374"
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data-ga-label="Russell R Reid">Russell R Reid</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA." href="#short-view-affiliation-50" ref="linksrc=author_aff">
50
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Devriendt+K&amp;cauthor_id=31834374"
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data-ga-label="Koenraad Devriendt">Koenraad Devriendt</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium." href="#short-view-affiliation-51" ref="linksrc=author_aff">
51
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chae+JH&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Jong-Hee Chae">Jong-Hee Chae</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea." href="#short-view-affiliation-52" ref="linksrc=author_aff">
52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Stolerman+E&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Elliot Stolerman">Elliot Stolerman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Greenwood Genetic Center, Greenwood, SC, USA." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McDougall+C&amp;cauthor_id=31834374"
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data-ga-label="Carey McDougall">Carey McDougall</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Powis+Z&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Zöe Powis">Zöe Powis</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bienvenu+T&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Thierry Bienvenu">Thierry Bienvenu</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France." href="#short-view-affiliation-53" ref="linksrc=author_aff">
53
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tan+TY&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Tiong Y Tan">Tiong Y Tan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children&#x27;s Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia." href="#short-view-affiliation-54" ref="linksrc=author_aff">
54
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Orenstein+N&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Naama Orenstein">Naama Orenstein</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Genetics Clinic, Schneider Children&#x27;s Medical Center of Israel, Petach Tikva, Israel." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel." href="#short-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dobyns+WB&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="William B Dobyns">William B Dobyns</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-55" ref="linksrc=author_aff">
55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shieh+JT&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Joseph T Shieh">Joseph T Shieh</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA." href="#short-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Choi+M&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Murim Choi">Murim Choi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea." href="#short-view-affiliation-18" ref="linksrc=author_aff">
18
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea." href="#short-view-affiliation-52" ref="linksrc=author_aff">
52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Waggoner+D&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Darrel Waggoner">Darrel Waggoner</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Chicago, Chicago, IL, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Gripp+KW&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-label="Karen W Gripp">Karen W Gripp</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA." href="#short-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Parker+MJ&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Michael J Parker">Michael J Parker</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sheffield Clinical Genetics Service, Sheffield Children&#x27;s Hospital, Sheffield S10 2TH, UK." href="#short-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Stoler+J&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Joan Stoler">Joan Stoler</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children&#x27;s Hospital, Boston, MA, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lyonnet+S&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stanislas Lyonnet">Stanislas Lyonnet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#short-view-affiliation-57" ref="linksrc=author_aff">
57
</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=31834374"
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="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#short-view-affiliation-57" ref="linksrc=author_aff">
57
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France." href="#short-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Viskochil+D&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="David Viskochil">David Viskochil</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA." href="#short-view-affiliation-59" ref="linksrc=author_aff">
59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hoffman+TL&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Trevor L Hoffman">Trevor L Hoffman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA." href="#short-view-affiliation-60" ref="linksrc=author_aff">
60
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Amiel+J&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jeanne Amiel">Jeanne Amiel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France." href="#short-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chung+BHY&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Brian H Y Chung">Brian H Y Chung</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China." 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=Gordon+CT&amp;cauthor_id=31834374"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christopher T Gordon">Christopher T Gordon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> GeneDx, Gaithersburg, MD, USA.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.</li>
<li data-affiliation-id="short-view-affiliation-12"
id="short-view-affiliation-12"
><sup class="key">12</sup> McMaster University Medical Center, Hamilton, Ontario, Canada.</li>
<li data-affiliation-id="short-view-affiliation-13"
id="short-view-affiliation-13"
><sup class="key">13</sup> Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.</li>
<li data-affiliation-id="short-view-affiliation-14"
id="short-view-affiliation-14"
><sup class="key">14</sup> Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children&#x27;s Hospital, Little Rock, AR, USA.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.</li>
<li data-affiliation-id="short-view-affiliation-19"
id="short-view-affiliation-19"
><sup class="key">19</sup> Department of Radiology, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-20"
id="short-view-affiliation-20"
><sup class="key">20</sup> Division of Human Genetics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-21"
id="short-view-affiliation-21"
><sup class="key">21</sup> Greenwood Genetic Center, Greenwood, SC, USA.</li>
<li data-affiliation-id="short-view-affiliation-22"
id="short-view-affiliation-22"
><sup class="key">22</sup> PreventionGenetics, Marshfield, WI, USA.</li>
<li data-affiliation-id="short-view-affiliation-23"
id="short-view-affiliation-23"
><sup class="key">23</sup> Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-24"
id="short-view-affiliation-24"
><sup class="key">24</sup> Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-25"
id="short-view-affiliation-25"
><sup class="key">25</sup> Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-26"
id="short-view-affiliation-26"
><sup class="key">26</sup> Praxis für Humangenetik Tübingen, Tübingen, Germany.</li>
<li data-affiliation-id="short-view-affiliation-27"
id="short-view-affiliation-27"
><sup class="key">27</sup> Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</li>
<li data-affiliation-id="short-view-affiliation-28"
id="short-view-affiliation-28"
><sup class="key">28</sup> Division of Genetics and Genomics, Boston Children&#x27;s Hospital, Boston, MA, USA.</li>
<li data-affiliation-id="short-view-affiliation-29"
id="short-view-affiliation-29"
><sup class="key">29</sup> Division of Genomic Diagnostics, Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-30"
id="short-view-affiliation-30"
><sup class="key">30</sup> eviCore healthcare, Bluffton, SC, USA.</li>
<li data-affiliation-id="short-view-affiliation-31"
id="short-view-affiliation-31"
><sup class="key">31</sup> Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-32"
id="short-view-affiliation-32"
><sup class="key">32</sup> Institute of Human Genetics, Technische Universität München, Munich, Germany.</li>
<li data-affiliation-id="short-view-affiliation-33"
id="short-view-affiliation-33"
><sup class="key">33</sup> Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.</li>
<li data-affiliation-id="short-view-affiliation-34"
id="short-view-affiliation-34"
><sup class="key">34</sup> Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.</li>
<li data-affiliation-id="short-view-affiliation-35"
id="short-view-affiliation-35"
><sup class="key">35</sup> Berlin Institute of Health (BIH), Berlin, Germany.</li>
<li data-affiliation-id="short-view-affiliation-36"
id="short-view-affiliation-36"
><sup class="key">36</sup> Department of Human Genetics, University of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="short-view-affiliation-37"
id="short-view-affiliation-37"
><sup class="key">37</sup> Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.</li>
<li data-affiliation-id="short-view-affiliation-38"
id="short-view-affiliation-38"
><sup class="key">38</sup> Pediatric Genetics Clinic, Schneider Children&#x27;s Medical Center of Israel, Petach Tikva, Israel.</li>
<li data-affiliation-id="short-view-affiliation-39"
id="short-view-affiliation-39"
><sup class="key">39</sup> Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</li>
<li data-affiliation-id="short-view-affiliation-40"
id="short-view-affiliation-40"
><sup class="key">40</sup> Felsenstein Medical Research Center, Petach Tikva, Israel.</li>
<li data-affiliation-id="short-view-affiliation-41"
id="short-view-affiliation-41"
><sup class="key">41</sup> Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-42"
id="short-view-affiliation-42"
><sup class="key">42</sup> Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-43"
id="short-view-affiliation-43"
><sup class="key">43</sup> Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-44"
id="short-view-affiliation-44"
><sup class="key">44</sup> Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-45"
id="short-view-affiliation-45"
><sup class="key">45</sup> Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-46"
id="short-view-affiliation-46"
><sup class="key">46</sup> Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.</li>
<li data-affiliation-id="short-view-affiliation-47"
id="short-view-affiliation-47"
><sup class="key">47</sup> Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-48"
id="short-view-affiliation-48"
><sup class="key">48</sup> Department of Genome Sciences, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-49"
id="short-view-affiliation-49"
><sup class="key">49</sup> University of Washington Center for Mendelian Genomics, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-50"
id="short-view-affiliation-50"
><sup class="key">50</sup> Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="short-view-affiliation-51"
id="short-view-affiliation-51"
><sup class="key">51</sup> Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.</li>
<li data-affiliation-id="short-view-affiliation-52"
id="short-view-affiliation-52"
><sup class="key">52</sup> Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.</li>
<li data-affiliation-id="short-view-affiliation-53"
id="short-view-affiliation-53"
><sup class="key">53</sup> Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-54"
id="short-view-affiliation-54"
><sup class="key">54</sup> Victorian Clinical Genetics Services, Murdoch Children&#x27;s Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.</li>
<li data-affiliation-id="short-view-affiliation-55"
id="short-view-affiliation-55"
><sup class="key">55</sup> Department of Neurology, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-56"
id="short-view-affiliation-56"
><sup class="key">56</sup> Sheffield Clinical Genetics Service, Sheffield Children&#x27;s Hospital, Sheffield S10 2TH, UK.</li>
<li data-affiliation-id="short-view-affiliation-57"
id="short-view-affiliation-57"
><sup class="key">57</sup> Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-58"
id="short-view-affiliation-58"
><sup class="key">58</sup> Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-59"
id="short-view-affiliation-59"
><sup class="key">59</sup> Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.</li>
<li data-affiliation-id="short-view-affiliation-60"
id="short-view-affiliation-60"
><sup class="key">60</sup> Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.</li>
</ul>
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<span class="docsum-journal-citation full-journal-citation">Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007.</span>
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MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis.
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</strong>
MCTT syndrome; MN1; craniofacial development; intellectual disability; rhombencephalosynapsis.
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<div class="figure-caption-contents"><b> MN1 mutations and sequence conservation.… </b></div>
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<div class="figure-caption-contents"><b> MN1 mutations and sequence conservation. </b> ( <b> A </b> ) Distribution of C-terminal truncating mutations…</div>
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<div class="figure-caption-contents"><b>MN1 mutations and sequence conservation.</b> (<b>A</b>) Distribution of C-terminal truncating mutations identified in <i>MN1</i> in 21 probands (red arrows). Beneath the schema of the gene, black arrows indicate the positions of loss-of-function variants in the gnomAD database and p.(Ser179*), p.(Pro365Thrfs*120) and p.(Ser472*) identified in Individuals 24, 25 and 26, respectively. (<b>B</b>) MN1 C-terminal sequence conservation. Multi-species sequence alignment of the entire exon 2 coding region of <i>MN1</i>. Sequences were obtained from the following RefSeq or Ensembl transcripts: human, NM_002430.2; mouse, NM_001081235.1; <i>Xenopus</i>, NM_001100202.1; zebrafish, ENSDART00000129197. Red arrows indicate the positions of the mutations identified in exon 2.</div>
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<div class="figure-caption-contents"><b> Facial features of individuals with C-terminal truncating mutations in <i> MN1 </i> . </b> Oral view…</div>
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<div class="figure-caption-contents"><b>Facial features of individuals with C-terminal truncating mutations in <i>MN1</i>.</b> Oral view for Individuals 18 and 22 indicates high and narrow palate. Individual identification numbers are indicated at the <i>top left</i> of each panel.</div>
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<div class="figure-caption-contents"><b> 3D CT scans indicating craniosynostosis… </b></div>
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<div class="figure-caption-contents"><b> 3D CT scans indicating craniosynostosis in individuals with C-terminal truncating mutations in <i> MN1… </i> </b></div>
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<div class="figure-caption-contents"><b>3D CT scans indicating craniosynostosis in individuals with C-terminal truncating mutations in <i>MN1</i>.</b> For Individual 5, images show bilateral partial craniosynostosis of squamosal, frontosphenoid and coronal sutures. For Individuals 12 and 18, images show closure of the metopic, coronal and sagittal sutures and partial closure of lambdoid sutures. The images of Individual 18 are subsequent to fronto-orbital advancement surgery and placement of a ventriculoperitoneal shunt.</div>
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<div class="figure-caption-contents"><b> Brain findings in patients with… </b></div>
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<div class="figure-caption-contents"><b> Brain findings in patients with C-terminal truncating <i> MN1 </i> variants. </b> ( <b> A </b> ) Inferior…</div>
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<div class="figure-caption-contents"><b>Brain findings in patients with C-terminal truncating <i>MN1</i> variants.</b> (<b>A</b>) Inferior cerebellum (axial view): foliar dysplasia with indistinct vermis and abnormal folia crossing the midline (Individuals 2, 14, 17, 20, 21); normal inferior cerebellar anatomy (Individuals 24 and 28). (<b>B</b>) Superior cerebellum (axial view): small (Individuals 17, 20 and 21) or almost absent (Individuals 2 and 14) vermis with abnormal folia crossing the midline especially ventrally; normal superior cerebellar anatomy with intact vermis (Individuals 24 and 28). Arrow in Individual 17 indicates persistent trigeminal artery. (<b>C</b>) Insula (axial view): polymicrogyria interior to yellow bars (Individuals 14, 17, 20 and 21), normal appearance (Individuals 2, 24 and 28). Note that Individual 14 has a cavum velum interpositum (asterisk) and all individuals with C-terminal truncating variants have unusual head shape with bitemporal narrowing. (<b>D</b>) Midline (sagittal view): Tall, flat forehead and thickened rostral corpus callosum (Individuals 2, 14, 17, 20 and 21), abnormal vermis lobulation with indistinct primary and horizontal fissures (Individuals 2, 14, 17, 20 and 21), persistent trigeminal artery (arrow in Individual 14) and prominent posterior clinoid process (arrowheads in Individuals 17 and 20).</div>
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<p> Figure 5 </p>
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<div class="figure-caption-contents"><b> Persistent trigeminal artery and prominent… </b></div>
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<p> Figure 5 </p>
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<div class="figure-caption-contents"><b> Persistent trigeminal artery and prominent posterior clinoid process in patients with C-terminal truncating… </b></div>
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Figure 5
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<div class="figure-caption-contents"><b>Persistent trigeminal artery and prominent posterior clinoid process in patients with C-terminal truncating <i>MN1</i> variants.</b> (<b>A</b>) Carotid and basilar arteries (axial view): Persistent trigeminal artery flow-voids (dark signal) connecting the carotid (C) and basilar (B) artery flow-voids (arrows). The persistent trigeminal arteries are unilateral in Individuals 11 and 17, and bilateral in Individual 13. Individual 24 with an early truncating variant does not have persistent trigeminal arteries (shown for comparison). (<b>B</b>) Prominent posterior clinoid process (sagittal view): abnormal tissue just superior to the posterior pituitary bright spot and continuous with the posterior clinoid process (arrowheads). Individual 24 without the abnormal tissue is shown for comparison.</div>
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<div class="figure-caption-contents"><b> Facial features of individuals with N-terminal truncating mutations in <i> MN1 </i> or whole deletions… </b></div>
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Figure 6
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<div class="figure-caption-contents"><b>Facial features of individuals with N-terminal truncating mutations in <i>MN1</i> or whole deletions of <i>MN1</i>.</b> Individual identification numbers are indicated at the <i>top left</i> of each panel.</div>
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MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
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Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, et al.Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. J Med Genet 2002; 39: E6.
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Related information
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Grants and funding
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