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|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25052316%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25052316%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
<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: 25052316 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 25052316"/>
|
||
<input type="hidden" name="email-subject-hash" value="d9f1a435083910fe22e8f88f0e9e464b28877695a1e3c4ba6bc9a56bcabb85e6"/>
|
||
</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="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
|
||
|
||
<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="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
|
||
|
||
<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="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="25052316">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://doi.org/10.1038/ejhg.2014.95"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=25052316&db=pubmed&nlmid=9302235"
|
||
title="See full text options at Nature Publishing Group"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Nature Publishing Group"
|
||
data-ga-label="25052316"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nature.com-static-images-logos-nature-portfolio-120.png" alt="Nature Publishing Group full text link"><span class="text">
|
||
|
||
Nature Publishing Group
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25052316/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=25052316&db=pubmed&nlmid=9302235"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="25052316"
|
||
><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="/25052316/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/25052316/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="25052316" 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%2F25052316%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="yNI9EDynsN9FcjmR12fIZPh6bbHadltUPAseht1J2oW96KsHElSKtXNKJfpm6W1e"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=David+A&cauthor_id=25052316"
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data-ga-label="Albert David">Albert David</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Nantes, France." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Devriendt+K&cauthor_id=25052316"
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data-ga-label="Koen Devriendt">Koen Devriendt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Hospital Gasthuisberg, Leuven, Belgium." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Eftekhari+P&cauthor_id=25052316"
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data-ga-label="Pirayeh Eftekhari">Pirayeh Eftekhari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Hematology, APHP Lariboisière Hospital, Paris, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Drouin-Garraud+V&cauthor_id=25052316"
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data-ga-label="Valérie Drouin-Garraud">Valérie Drouin-Garraud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Rouen, France." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Faravelli+F&cauthor_id=25052316"
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data-ga-label="Francesca Faravelli">Francesca Faravelli</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Faivre+L&cauthor_id=25052316"
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data-ga-label="Laurence Faivre">Laurence Faivre</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Dijon, France." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Giuliano+F&cauthor_id=25052316"
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data-ga-label="Fabienne Giuliano">Fabienne Giuliano</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Nice, France." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Guion+Almeida+L&cauthor_id=25052316"
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data-ga-label="Leina Guion Almeida">Leina Guion Almeida</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, Brazil." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Juncos+J&cauthor_id=25052316"
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data-ga-label="Jorge Juncos">Jorge Juncos</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kempers+M&cauthor_id=25052316"
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data-ga-label="Marlies Kempers">Marlies Kempers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Radboud University Medical Centre, Nijmegen, The Netherlands." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Eker+HK&cauthor_id=25052316"
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data-ga-label="Hatice Koçak Eker">Hatice Koçak Eker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Dr Faruk Sükan Maternity and Children's Hospital, Konya, Turkey." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lacombe+D&cauthor_id=25052316"
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data-ga-label="Didier Lacombe">Didier Lacombe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Bordeaux, France." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lin+A&cauthor_id=25052316"
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data-ga-label="Angela Lin">Angela Lin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Unit, Massachusetts General Hospital, Boston, MA, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Mancini+G&cauthor_id=25052316"
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data-ga-label="Grazia Mancini">Grazia Mancini</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Erasmus Medical Center, Rotterdam, The Netherlands." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Melis+D&cauthor_id=25052316"
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data-ga-label="Daniela Melis">Daniela Melis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Pediatria, Università Federico II, Naples, Italy." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Louren%C3%A7o+CM&cauthor_id=25052316"
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data-ga-label="Charles Marques Lourenço">Charles Marques Lourenço</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Siu+VM&cauthor_id=25052316"
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data-ga-label="Victoria Mok Siu">Victoria Mok Siu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Morin+G&cauthor_id=25052316"
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data-ga-label="Gilles Morin">Gilles Morin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Amiens, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Nezarati+M&cauthor_id=25052316"
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data-ga-label="Marjan Nezarati">Marjan Nezarati</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North York General Hospital, Toronto, Ontario, Canada." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Nowaczyk+MJ&cauthor_id=25052316"
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data-ga-label="Malgorzata J M Nowaczyk">Malgorzata J M Nowaczyk</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McMaster University, Hamilton, Ontario, Canada." href="#full-view-affiliation-28" ref="linksrc=author_aff">
|
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28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ramer+JC&cauthor_id=25052316"
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data-ga-label="Jeanette C Ramer">Jeanette C Ramer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Pennsylvania State University, Hershey, PA, USA." href="#full-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Osimani+S&cauthor_id=25052316"
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data-ga-label="Sara Osimani">Sara Osimani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Philip+N&cauthor_id=25052316"
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data-ga-label="Nicole Philip">Nicole Philip</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, La Timone University Hospital, Marseille, France." href="#full-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Pierpont+ME&cauthor_id=25052316"
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data-ga-label="Mary Ella Pierpont">Mary Ella Pierpont</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Ophthalmology, University of Minnesota Medical Center, Minneapolis, MN, USA." href="#full-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Procaccio+V&cauthor_id=25052316"
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data-ga-label="Vincent Procaccio">Vincent Procaccio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Department, University Hospital, Angers, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
|
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32
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Roseli+ZS&cauthor_id=25052316"
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data-ga-label="Zeichi-Seide Roseli">Zeichi-Seide Roseli</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, Brazil." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rossi+M&cauthor_id=25052316"
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data-ga-label="Massimiliano Rossi">Massimiliano Rossi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Lyon, France." href="#full-view-affiliation-33" ref="linksrc=author_aff">
|
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33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rusu+C&cauthor_id=25052316"
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data-ga-label="Cristina Rusu">Cristina Rusu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Hospital, Iasi, Romania." href="#full-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Sznajer+Y&cauthor_id=25052316"
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data-ga-label="Yves Sznajer">Yves Sznajer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, St Luc University Hospital, Brussels, Belgium." href="#full-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Templin+L&cauthor_id=25052316"
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data-ga-label="Ludivine Templin">Ludivine Templin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, La Timone University Hospital, Marseille, France." href="#full-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Uliana+V&cauthor_id=25052316"
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data-ga-label="Vera Uliana">Vera Uliana</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Klaus+M&cauthor_id=25052316"
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data-ga-label="Mirjam Klaus">Mirjam Klaus</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany." href="#full-view-affiliation-36" ref="linksrc=author_aff">
|
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36
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Van+Bon+B&cauthor_id=25052316"
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data-ga-label="Bregje Van Bon">Bregje Van Bon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Radboud University Medical Centre, Nijmegen, The Netherlands." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Van+Ravenswaaij+C&cauthor_id=25052316"
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data-ga-label="Conny Van Ravenswaaij">Conny Van Ravenswaaij</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Hospital, Groningen, The Netherlands." href="#full-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wainer+B&cauthor_id=25052316"
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data-ga-label="Bruce Wainer">Bruce Wainer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Office of the Chief Medical Examiner, City and County of San Francisco, CA, USA." href="#full-view-affiliation-38" ref="linksrc=author_aff">
|
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38
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fry+AE&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
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|
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41
|
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|
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39
|
||
</a></sup></span>
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Affiliations
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><sup class="key">1</sup> 1] Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France [2] INSERM UMR 1141, Hôspital Robert DEBRE, Paris, France.</li>
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<li data-affiliation-id="full-view-affiliation-2"
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<li data-affiliation-id="full-view-affiliation-4"
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><sup class="key">5</sup> Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.</li>
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|
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id="full-view-affiliation-6"
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><sup class="key">6</sup> Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.</li>
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><sup class="key">7</sup> Children's Hospital of Eastern Ontario, Ottawa, Canada.</li>
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<li data-affiliation-id="full-view-affiliation-8"
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id="full-view-affiliation-8"
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<li data-affiliation-id="full-view-affiliation-9"
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id="full-view-affiliation-9"
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><sup class="key">9</sup> Service de Génétique Médicale, Purpan University Hospital, Toulouse, France.</li>
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<li data-affiliation-id="full-view-affiliation-10"
|
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Service de Génétique Médicale, University Hospital, Nantes, France.</li>
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<li data-affiliation-id="full-view-affiliation-11"
|
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id="full-view-affiliation-11"
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><sup class="key">11</sup> Department of Genetics, University Hospital Gasthuisberg, Leuven, Belgium.</li>
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<li data-affiliation-id="full-view-affiliation-12"
|
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id="full-view-affiliation-12"
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><sup class="key">12</sup> Department of Hematology, APHP Lariboisière Hospital, Paris, France.</li>
|
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<li data-affiliation-id="full-view-affiliation-13"
|
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id="full-view-affiliation-13"
|
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><sup class="key">13</sup> Service de Génétique Médicale, University Hospital, Rouen, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-14"
|
||
id="full-view-affiliation-14"
|
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><sup class="key">14</sup> Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-15"
|
||
id="full-view-affiliation-15"
|
||
><sup class="key">15</sup> Service de Génétique Médicale, University Hospital, Dijon, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-16"
|
||
id="full-view-affiliation-16"
|
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><sup class="key">16</sup> Service de Génétique Médicale, University Hospital, Nice, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-17"
|
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id="full-view-affiliation-17"
|
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><sup class="key">17</sup> Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, Brazil.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-18"
|
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id="full-view-affiliation-18"
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><sup class="key">18</sup> Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-19"
|
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id="full-view-affiliation-19"
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><sup class="key">19</sup> Department of Medical Genetics, Dr Faruk Sükan Maternity and Children's Hospital, Konya, Turkey.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-20"
|
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id="full-view-affiliation-20"
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><sup class="key">20</sup> Service de Génétique Médicale, University Hospital, Bordeaux, France.</li>
|
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<li data-affiliation-id="full-view-affiliation-21"
|
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id="full-view-affiliation-21"
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><sup class="key">21</sup> Medical Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-22"
|
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id="full-view-affiliation-22"
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><sup class="key">22</sup> Erasmus Medical Center, Rotterdam, The Netherlands.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-23"
|
||
id="full-view-affiliation-23"
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><sup class="key">23</sup> Dipartimento di Pediatria, Università Federico II, Naples, Italy.</li>
|
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<li data-affiliation-id="full-view-affiliation-24"
|
||
id="full-view-affiliation-24"
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><sup class="key">24</sup> Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.</li>
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<li data-affiliation-id="full-view-affiliation-25"
|
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id="full-view-affiliation-25"
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><sup class="key">25</sup> Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.</li>
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<li data-affiliation-id="full-view-affiliation-26"
|
||
id="full-view-affiliation-26"
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><sup class="key">26</sup> Service de Génétique Médicale, University Hospital, Amiens, France.</li>
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id="full-view-affiliation-30"
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><sup class="key">30</sup> Service de Génétique Médicale, La Timone University Hospital, Marseille, France.</li>
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<li data-affiliation-id="full-view-affiliation-31"
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id="full-view-affiliation-31"
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><sup class="key">31</sup> Department of Pediatrics and Ophthalmology, University of Minnesota Medical Center, Minneapolis, MN, USA.</li>
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<li data-affiliation-id="full-view-affiliation-32"
|
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id="full-view-affiliation-32"
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><sup class="key">32</sup> Genetic Department, University Hospital, Angers, France.</li>
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<li data-affiliation-id="full-view-affiliation-33"
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id="full-view-affiliation-33"
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><sup class="key">33</sup> Service de Génétique Médicale, University Hospital, Lyon, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-34"
|
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id="full-view-affiliation-34"
|
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><sup class="key">34</sup> Department of Genetics, University Hospital, Iasi, Romania.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-35"
|
||
id="full-view-affiliation-35"
|
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><sup class="key">35</sup> Service de Génétique Médicale, St Luc University Hospital, Brussels, Belgium.</li>
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||
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<li data-affiliation-id="full-view-affiliation-36"
|
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id="full-view-affiliation-36"
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><sup class="key">36</sup> Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany.</li>
|
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<li data-affiliation-id="full-view-affiliation-37"
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id="full-view-affiliation-37"
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><sup class="key">37</sup> Department of Genetics, University Hospital, Groningen, The Netherlands.</li>
|
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<li data-affiliation-id="full-view-affiliation-38"
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id="full-view-affiliation-38"
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><sup class="key">38</sup> Office of the Chief Medical Examiner, City and County of San Francisco, CA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-39"
|
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id="full-view-affiliation-39"
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><sup class="key">39</sup> Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</li>
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<li data-affiliation-id="full-view-affiliation-40"
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id="full-view-affiliation-40"
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><sup class="key">40</sup> 1] Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy [2] Seattle Children's Hospital, Seattle, WA, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-41"
|
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id="full-view-affiliation-41"
|
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><sup class="key">41</sup> Seattle Children's Hospital, Seattle, WA, USA.</li>
|
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|
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<h1 class="heading-title">
|
||
|
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|
||
|
||
|
||
|
||
|
||
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
|
||
|
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|
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|
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</h1>
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<div class="short-citation">
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<span class="authors-list-item "><span class="full-name">Alain Verloes</span><span class="citation-separator"> et al.</span></span>
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data-ga-label="Malgorzata J M Nowaczyk">Malgorzata J M Nowaczyk</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McMaster University, Hamilton, Ontario, Canada." href="#short-view-affiliation-28" ref="linksrc=author_aff">
|
||
28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ramer+JC&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jeanette C Ramer">Jeanette C Ramer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Pennsylvania State University, Hershey, PA, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Osimani+S&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sara Osimani">Sara Osimani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Philip+N&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Nicole Philip">Nicole Philip</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, La Timone University Hospital, Marseille, France." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pierpont+ME&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mary Ella Pierpont">Mary Ella Pierpont</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Ophthalmology, University of Minnesota Medical Center, Minneapolis, MN, USA." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Procaccio+V&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Vincent Procaccio">Vincent Procaccio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Department, University Hospital, Angers, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Roseli+ZS&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Zeichi-Seide Roseli">Zeichi-Seide Roseli</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, Brazil." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rossi+M&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Massimiliano Rossi">Massimiliano Rossi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, University Hospital, Lyon, France." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rusu+C&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Cristina Rusu">Cristina Rusu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Hospital, Iasi, Romania." href="#short-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sznajer+Y&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Yves Sznajer">Yves Sznajer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, St Luc University Hospital, Brussels, Belgium." href="#short-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Templin+L&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Ludivine Templin">Ludivine Templin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, La Timone University Hospital, Marseille, France." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Uliana+V&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Vera Uliana">Vera Uliana</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Klaus+M&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mirjam Klaus">Mirjam Klaus</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Van+Bon+B&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bregje Van Bon">Bregje Van Bon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Radboud University Medical Centre, Nijmegen, The Netherlands." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Van+Ravenswaaij+C&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Conny Van Ravenswaaij">Conny Van Ravenswaaij</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Hospital, Groningen, The Netherlands." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wainer+B&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bruce Wainer">Bruce Wainer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Office of the Chief Medical Examiner, City and County of San Francisco, CA, USA." href="#short-view-affiliation-38" ref="linksrc=author_aff">
|
||
38
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fry+AE&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Andrew E Fry">Andrew E Fry</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK." href="#short-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rump+A&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Andreas Rump">Andreas Rump</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Dresden, Germany." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hoischen+A&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alexander Hoischen">Alexander Hoischen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Radboud University Medical Centre, Nijmegen, The Netherlands." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Drunat+S&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Séverine Drunat">Séverine Drunat</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rivi%C3%A8re+JB&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jean-Baptiste Rivière">Jean-Baptiste Rivière</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1] Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy [2] Seattle Children's Hospital, Seattle, WA, USA." href="#short-view-affiliation-40" ref="linksrc=author_aff">
|
||
40
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Dobyns+WB&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="William B Dobyns">William B Dobyns</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Seattle Children's Hospital, Seattle, WA, USA." href="#short-view-affiliation-41" ref="linksrc=author_aff">
|
||
41
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pilz+DT&cauthor_id=25052316"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Daniela T Pilz">Daniela T Pilz</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK." href="#short-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> 1] Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France [2] INSERM UMR 1141, Hôspital Robert DEBRE, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Dresden, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Radboud University Medical Centre, Nijmegen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Children's Hospital of Eastern Ontario, Ottawa, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Hospital das Clínicas da Faculdade de Medicina da Universidade and Instituto de Biociênicas da Universidade, São Paulo, Brazil.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Service de Génétique Médicale, Purpan University Hospital, Toulouse, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Service de Génétique Médicale, University Hospital, Nantes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Genetics, University Hospital Gasthuisberg, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Hematology, APHP Lariboisière Hospital, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Service de Génétique Médicale, University Hospital, Rouen, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Service de Génétique Médicale, University Hospital, Dijon, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Service de Génétique Médicale, University Hospital, Nice, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, Brazil.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Medical Genetics, Dr Faruk Sükan Maternity and Children's Hospital, Konya, Turkey.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Service de Génétique Médicale, University Hospital, Bordeaux, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Medical Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Erasmus Medical Center, Rotterdam, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Dipartimento di Pediatria, Università Federico II, Naples, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Service de Génétique Médicale, University Hospital, Amiens, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> North York General Hospital, Toronto, Ontario, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> McMaster University, Hamilton, Ontario, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Department of Pediatrics, Pennsylvania State University, Hershey, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Service de Génétique Médicale, La Timone University Hospital, Marseille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Department of Pediatrics and Ophthalmology, University of Minnesota Medical Center, Minneapolis, MN, USA.</li>
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<li data-affiliation-id="short-view-affiliation-32"
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><sup class="key">32</sup> Genetic Department, University Hospital, Angers, France.</li>
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<li data-affiliation-id="short-view-affiliation-33"
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><sup class="key">33</sup> Service de Génétique Médicale, University Hospital, Lyon, France.</li>
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<li data-affiliation-id="short-view-affiliation-34"
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id="short-view-affiliation-34"
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><sup class="key">34</sup> Department of Genetics, University Hospital, Iasi, Romania.</li>
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<li data-affiliation-id="short-view-affiliation-35"
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><sup class="key">35</sup> Service de Génétique Médicale, St Luc University Hospital, Brussels, Belgium.</li>
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<li data-affiliation-id="short-view-affiliation-36"
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id="short-view-affiliation-36"
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><sup class="key">36</sup> Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany.</li>
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<li data-affiliation-id="short-view-affiliation-37"
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><sup class="key">37</sup> Department of Genetics, University Hospital, Groningen, The Netherlands.</li>
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><sup class="key">38</sup> Office of the Chief Medical Examiner, City and County of San Francisco, CA, USA.</li>
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<li data-affiliation-id="short-view-affiliation-39"
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><sup class="key">39</sup> Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.</li>
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<li data-affiliation-id="short-view-affiliation-40"
|
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id="short-view-affiliation-40"
|
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><sup class="key">40</sup> 1] Dipartimento di Genetica Medica, Ospedale Galliera, Genova, Italy [2] Seattle Children's Hospital, Seattle, WA, USA.</li>
|
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<li data-affiliation-id="short-view-affiliation-41"
|
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id="short-view-affiliation-41"
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><sup class="key">41</sup> Seattle Children's Hospital, Seattle, WA, USA.</li>
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Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity.
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<div class="figure-caption-contents"><p> Mutation spectrum of BWCFF syndrome.… </p></div>
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<div class="figure-caption-contents"><p> Mutation spectrum of BWCFF syndrome. The scheme takes advantage of the similarity of… </p></div>
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Figure 1
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<div class="figure-caption-contents">Mutation spectrum of BWCFF syndrome. The scheme takes advantage of the similarity of exon organization and protein sequence. Non-coding exon sequences are narrower and lighter. Functional domains are coded in color (apparent dispersion of each domain explained by 3D configuration). The number of the first aminoacid of each exon, and of the last aminoacid of exon 5 are mentioned. The full colour version of this figure is available at <i>European Journal of Human Genetics</i> online.</div>
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<div class="figure-caption-contents"><p> The spectrum of facial dysmorphology… </p></div>
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<div class="figure-caption-contents"><p> The spectrum of facial dysmorphology of BWCFF. Facial appearance of 15 patients with… </p></div>
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<div class="figure-caption-contents">The spectrum of facial dysmorphology of BWCFF. Facial appearance of 15 patients with ACTG1 (An) or ACTB (Bn) mutations, subjectively sorted by gradient of severity. Picture of Patient B32 was previously published.</div>
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<div class="figure-caption-contents"><p> Evolution of the phenotype with… </p></div>
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<div class="figure-caption-contents"><p> Evolution of the phenotype with time. Evolution of the facial appearance of five… </p></div>
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<div class="figure-caption-contents">Evolution of the phenotype with time. Evolution of the facial appearance of five patients with ACTG1 (An) or ACTB (Bn) mutations.</div>
|
||
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<div class="figure-caption-contents"><p> Non-facial anomalies in BWCFF. Patient… </p></div>
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|
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<div class="figure-caption-contents"><p> Non-facial anomalies in BWCFF. Patient B34: preaxial polydactyly of feet – Patient B6:… </p></div>
|
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|
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|
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</div>
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Figure 4
|
||
</strong>
|
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|
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|
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|
||
<div class="figure-caption-contents">Non-facial anomalies in BWCFF. Patient B34: preaxial polydactyly of feet – Patient B6: pectus excavatum – Patient B19: brachydactyly and nail hypoplasia – Patient B11: Noonan-like appearance of mild BWCFF syndrome – Patient B32: severe CFF appearance: note bifid nose, narrow shoulder girdle with hypoplastic muscles webbed neck and severe scoliosis – Patient A1: note typical stance of older BWCFF patients, with anteverted shoulders and semiflexed knees.</div>
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data-figure-id="fig5">
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<p> Figure 5 </p>
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</strong>
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<div class="figure-caption-contents"><p> MRI aspects of BWCFF –… </p></div>
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<p> Figure 5 </p>
|
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</strong>
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|
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||
<div class="figure-caption-contents"><p> MRI aspects of BWCFF – ACTB and ACTG1. T1 and T2-weighted axial and… </p></div>
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|
||
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</div>
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<figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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Figure 5
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">MRI aspects of BWCFF – ACTB and ACTG1. T1 and T2-weighted axial and T1-weighted sagittal MR images ordered by extent of the cortical malformation. ACTG1: focal (central) pachygyria (A6), pachygyria and posterior subcortical band heterotopia (A2: white arrow) and diffuse pachygyria (A8, A3). Patient B22 also had a number of periventricular nodular heterotopia (see). ACTB: normal cortex (B12), focal (central) pachygyria (B2 B22; white arrows), predominantly frontoparietal pachygyria (B9, B5), diffuse pachygyria (B8, B14), lissencephaly (B3). Note the shortened and thick corpus callosum (B2, B5, B14 and A8).</div>
|
||
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</figcaption>
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<span class="docsum-authors full-authors">Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA.</span>
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<span class="docsum-authors short-authors">Atzmony L, et al.</span>
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<span class="docsum-journal-citation full-journal-citation">J Cutan Pathol. 2020 Aug;47(8):681-685. doi: 10.1111/cup.13683. Epub 2020 Apr 6.</span>
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<span class="docsum-authors short-authors">Valencia AM, et al.</span>
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<span class="docsum-authors short-authors">Göbel T, et al.</span>
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Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988;25:41–43.
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Ramer JC, Mascari MJ, Manders E, Ladda RL. Syndrome identification # 149: trigonocephaly, pachygyria, retinal coloboma and cardiac defect: a distinct syndrome. Dysmorph Clin Genet. 1992;6:15–20.
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Ramer JC, Lin AE, Dobyns WD, et al. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995;57:403–409.
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Fryns JP, Aftimos S. New MCA/MR syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy and pachygyria of the frontal lobes. J Med Genet. 2000;37:460–462.
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data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Actins / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Actins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Actins / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Actins/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Actins/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Adolescent"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adolescent
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Adolescent"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Adolescent%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adolescent%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Adolescent"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Adolescent">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Adolescent"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Adolescent">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Adolescent"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adolescent"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Adult"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adult
|
||
</button><div id="keyword-actions-mesh-terms-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Adult"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Adult">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Adult"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Adult">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adult"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Amino Acid Substitution"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Amino Acid Substitution
|
||
</button><div id="keyword-actions-mesh-terms-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Amino Acid Substitution"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Amino+Acid+Substitution%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Amino+Acid+Substitution%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Amino Acid Substitution"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Amino Acid Substitution">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Amino+Acid+Substitution"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Amino Acid Substitution">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Amino Acid Substitution"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Amino Acid Substitution"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child, Preschool"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child, Preschool
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child, Preschool"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child, Preschool">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child%2C+Preschool"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child, Preschool">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child, Preschool"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Craniofacial Abnormalities / diagnosis*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Craniofacial Abnormalities / diagnosis*
|
||
</button><div id="keyword-actions-mesh-terms-major-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Craniofacial Abnormalities / diagnosis*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Craniofacial+Abnormalities%2Fdiagnosis%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Craniofacial+Abnormalities%2Fdiagnosis%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Craniofacial Abnormalities/diagnosis"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Craniofacial Abnormalities / diagnosis*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Craniofacial+Abnormalities"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Craniofacial Abnormalities / diagnosis*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Craniofacial Abnormalities/diagnosis"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Craniofacial Abnormalities/diagnosis"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Craniofacial Abnormalities / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Craniofacial Abnormalities / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Craniofacial Abnormalities / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Craniofacial+Abnormalities%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Craniofacial+Abnormalities%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Craniofacial Abnormalities/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Craniofacial Abnormalities / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Craniofacial+Abnormalities"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Craniofacial Abnormalities / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Craniofacial Abnormalities/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Craniofacial Abnormalities/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Facies"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-10"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Facies
|
||
</button><div id="keyword-actions-mesh-terms-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Facies"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Facies%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Facies%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Facies"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Facies">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Facies"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Facies">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Facies"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Facies"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Female"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Female
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Female">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Female">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Female"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Gene Order"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Gene Order
|
||
</button><div id="keyword-actions-mesh-terms-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Gene Order"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Gene+Order%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Gene+Order%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Gene Order"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Gene Order">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Gene+Order"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Gene Order">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Gene Order"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Gene Order"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Genetic Loci"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Genetic Loci
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Genetic Loci"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Genetic+Loci%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Genetic+Loci%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Loci"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Genetic Loci">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Loci"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Genetic Loci">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Genetic Loci"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Genetic Loci"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Humans">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Male"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-15"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-15"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Male">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Male">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Male"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Mutation"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-16"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation
|
||
</button><div id="keyword-actions-mesh-terms-16"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutation">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Phenotype"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-17"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-17"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Phenotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
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data-ga-label="Phenotype">
|
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Phenotype"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Phenotype">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Phenotype"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Young Adult"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-18"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Young Adult
|
||
</button><div id="keyword-actions-mesh-terms-18"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Young Adult"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Young Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Young Adult">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Young+Adult"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Young Adult">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Young Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Young Adult"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Actins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Actins
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Actins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Actins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Actins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Actins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Actins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Actins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Actins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Actins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Actins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
|
||
<h2 class="title">
|
||
Supplementary concepts
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Cerebrofrontofacial Syndrome"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-supplementary-concepts-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Cerebrofrontofacial Syndrome
|
||
</button><div id="keyword-actions-supplementary-concepts-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Cerebrofrontofacial Syndrome"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Cerebrofrontofacial+Syndrome%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Cerebrofrontofacial+Syndrome%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Cerebrofrontofacial Syndrome"[nm]"
|
||
data-ga-category="search"
|
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data-ga-action="supplementary_concept"
|
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data-ga-label="Cerebrofrontofacial Syndrome">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cerebrofrontofacial+Syndrome"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="supplementary_concept_link"
|
||
data-ga-label="Cerebrofrontofacial Syndrome">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Cerebrofrontofacial Syndrome"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Cerebrofrontofacial Syndrome"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="related-links" class="related-links">
|
||
<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
||
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=1">
|
||
Cited in Books
|
||
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=2">
|
||
ClinVar
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=3">
|
||
MedGen
|
||
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=4">
|
||
MedGen (Bookshelf cited)
|
||
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=5">
|
||
OMIM (cited)
|
||
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&from_uid=25052316"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25052316&ordinalpos=1&linkpos=6">
|
||
SNP
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
|
||
<h2 class="title">
|
||
LinkOut - more resources
|
||
</h2>
|
||
|
||
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://europepmc.org/abstract/MED/25052316"
|
||
target="_blank"
|
||
rel="noopener"
|
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ref="linksrc=linkout_link&PrId=6082&uid=25052316&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Europe PubMed Central"
|
||
>
|
||
Europe PubMed Central
|
||
</a></li><li><a
|
||
href="https://doi.org/10.1038/ejhg.2014.95"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3094&uid=25052316&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Nature Publishing Group"
|
||
>
|
||
Nature Publishing Group
|
||
</a></li><li><a
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25052316/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3494&uid=25052316&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="PubMed Central"
|
||
>
|
||
PubMed Central
|
||
</a></li></ul></li><li><h3 class="linkout-category">Other Literature Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://scite.ai/reports/25052316"
|
||
target="_blank"
|
||
rel="noopener"
|
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ref="linksrc=linkout_link&PrId=10307&uid=25052316&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Other Literature Sources"
|
||
data-ga-label="scite Smart Citations"
|
||
>
|
||
scite Smart Citations
|
||
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
|
||
href="https://medlineplus.gov/facialinjuriesanddisorders.html"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3162&uid=25052316&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9302235"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Medical"
|
||
data-ga-label="MedlinePlus Health Information"
|
||
>
|
||
MedlinePlus Health Information
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