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|
||
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%2F35322404%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%2F35322404%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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
</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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
|
||
|
||
<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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
<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: 35322404 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 35322404"/>
|
||
<input type="hidden" name="email-subject-hash" value="7d5475a4b2892ee7595914091dc951cd3e12c3b9c88b372d81d5dd639b8d7bdc"/>
|
||
</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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
|
||
|
||
<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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
|
||
|
||
<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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
<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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
|
||
|
||
<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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882">
|
||
|
||
<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="35322404">
|
||
<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/10.1111/cge.14132"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3058&itool=Abstract-def&log$=linkouticon&uid=35322404&db=pubmed&nlmid=0253664"
|
||
title="See full text options at Wiley"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Wiley"
|
||
data-ga-label="35322404"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
|
||
|
||
Wiley
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/35322404/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=35322404&db=pubmed&nlmid=0253664"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="35322404"
|
||
><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="/35322404/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/35322404/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="35322404" 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%2F35322404%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="AUwqxGvNSbERpJufCsj31LQblW3dKxAIRHgvawY9sMrljaA5fLW5vTmPT0LpD882"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
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data-ga-label="Felix Levesque">Felix Levesque</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolic, Department of Paediatrics, Jim Pattison Children's Hospital, University of Saskatchewan, Saskatoon, Canada." href="#full-view-affiliation-8" ref="linksrc=author_aff">
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8
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4
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4
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|
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9
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Medicine, Columbia University Irving Medical Center, New York, New York, USA." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
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10
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Haluk Kavus">Haluk Kavus</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Reza Maroofian">Reza Maroofian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="UCL Queen Square Institute of Neurology, University College London, London, UK." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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13
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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13
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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13
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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14
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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14
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Henry Houlden">Henry Houlden</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="UCL Queen Square Institute of Neurology, University College London, London, UK." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Joseph G Gleeson">Joseph G Gleeson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Jill V Hunter">Jill V Hunter</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Radiology, Baylor College of Medicine, Houston, Texas, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
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17
|
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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=Posey+JE&cauthor_id=35322404"
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data-ga-label="Jennifer E Posey">Jennifer E Posey</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
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2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="James R Lupski">James R Lupski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
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2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, Texas, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
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7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ayman W El-Hattab">Ayman W El-Hattab</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
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20
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a></sup></span>
|
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
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data-ga-label="Jill V Hunter">Jill V Hunter</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA." href="#short-view-affiliation-16" ref="linksrc=author_aff">
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16
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Radiology, Baylor College of Medicine, Houston, Texas, USA." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
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|
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|
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|
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|
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2
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, Texas, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
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7
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
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18
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
||
20
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
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</a></sup></span>
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|
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><sup class="key">1</sup> Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.</li>
|
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<li data-affiliation-id="short-view-affiliation-2"
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id="short-view-affiliation-2"
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><sup class="key">2</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.</li>
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|
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id="short-view-affiliation-3"
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><sup class="key">3</sup> Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.</li>
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id="short-view-affiliation-4"
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><sup class="key">5</sup> Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.</li>
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|
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id="short-view-affiliation-6"
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><sup class="key">6</sup> Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.</li>
|
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||
<li data-affiliation-id="short-view-affiliation-7"
|
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id="short-view-affiliation-7"
|
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><sup class="key">7</sup> Texas Children's Hospital, Houston, Texas, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
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><sup class="key">8</sup> Division of Medical Genetics and Metabolic, Department of Paediatrics, Jim Pattison Children's Hospital, University of Saskatchewan, Saskatoon, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
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><sup class="key">9</sup> Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.</li>
|
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|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
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><sup class="key">10</sup> Departments of Medicine, Columbia University Irving Medical Center, New York, New York, USA.</li>
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||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
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><sup class="key">12</sup> UCL Queen Square Institute of Neurology, University College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
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><sup class="key">13</sup> Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
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><sup class="key">14</sup> Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
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id="short-view-affiliation-15"
|
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><sup class="key">15</sup> Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA.</li>
|
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|
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<li data-affiliation-id="short-view-affiliation-16"
|
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id="short-view-affiliation-16"
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><sup class="key">16</sup> E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.</li>
|
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<li data-affiliation-id="short-view-affiliation-17"
|
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id="short-view-affiliation-17"
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><sup class="key">17</sup> Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.</li>
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<li data-affiliation-id="short-view-affiliation-18"
|
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id="short-view-affiliation-18"
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><sup class="key">18</sup> Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.</li>
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<li data-affiliation-id="short-view-affiliation-19"
|
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id="short-view-affiliation-19"
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><sup class="key">19</sup> Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.</li>
|
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|
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<li data-affiliation-id="short-view-affiliation-20"
|
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id="short-view-affiliation-20"
|
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><sup class="key">20</sup> Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.</li>
|
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|
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<li data-affiliation-id="short-view-affiliation-21"
|
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id="short-view-affiliation-21"
|
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><sup class="key">21</sup> Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.</li>
|
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|
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</ul>
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<p>
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Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings. Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed in all subjects, and seizures and spastic quadriplegia in most. Common findings on brain imaging include cerebral atrophy, ex vacuo ventricular dilatation, brainstem volume loss, and symmetric under-opercularization. El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in microcephaly, developmental delay, spastic quadriplegia, and seizures. The phenotype appears to be more severe among individuals with loss-of-function variants whereas those with missense variants were less severely affected suggesting a potential genotype-phenotype correlation in this disorder. A brain imaging pattern emerges which is consistent among individuals with loss-of-function variants and could potentially alert the neuroradiologists or clinician to consider WDR45B-related El-Hattab-Alkuraya syndrome.
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Keywords:
|
||
</strong>
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WDR45B; autophagy; autosomal recessive (AR) trait; brain atrophy; neurodevelopmental disorders (NDD).
|
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<p class="copyright" id="copyright">
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© 2022 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.
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<div class="conflict-of-interest" id="conflict-of-interest">
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<h2 class="title">
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Conflict of interest statement
|
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</h2>
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<div class="statement">
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">COMPETING INTERESTS</p>
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Genetics Center, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics (BG); J.R.L. serves on the Scientific Advisory Board (SAB) of BG. WKC is a paid consultant for Regeneron Genetics Center.</p>
|
||
|
||
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">Other authors declare no conflict of interest</p>
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Figures
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ae6/9359317/387757a37c89/nihms-1791957-f0002.gif"
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<p> Figure 1. </p>
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<div class="figure-caption-contents"><p> Pedigrees of families included in… </p></div>
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<div class="figure-caption-contents"><p> Pedigrees of families included in this report. When available, genotype for family members… </p></div>
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Figure 1.
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<div class="figure-caption-contents">Pedigrees of families included in this report. When available, genotype for family members is indicated.</div>
|
||
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ae6/9359317/2696ac45d286/nihms-1791957-f0003.gif"
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<strong class="figure-label">
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<p> Figure 2. </p>
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<div class="figure-caption-contents"><b> a: </b> frontal view of Subject…</div>
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<strong class="figure-label">
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<p> Figure 2. </p>
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<div class="figure-caption-contents"><b> a: </b> frontal view of Subject 1 (F1-II3) showing: facial asymmetry, bitemporal narrowing, thick…</div>
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Figure 2.
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<div class="figure-caption-contents"><b>a:</b> frontal view of Subject 1 (F1-II3) showing: facial asymmetry, bitemporal narrowing, thick and arched eyebrows, upslanted and narrow palpebral fissures, hypertelorism, fullness of upper eyelids, and full cheeks. <b>b:</b> frontal view of Subject 2 (F1-II7) showing: Broad forehead and epicanthal folds. <b>c and d:</b> frontal and lateral views of Subject 4 (F3-II1): long face, bitemporal narrowing, thick and arched eyebrows, downslanted palpebral fissures, large ears, long philtrum, thin upper lip, and broad chin. <b>e and f:</b> frontal and lateral views of Subject 6 (F4-II5) showing narrow palpebral fissures, hypertelorism, large ears, thick lips, long philtrum, and retromicrognathia. <b>g:</b> frontal view of Subject 9 (F5-III11) showingelongated face, bitemporal narrowing, thick and arched eyebrows with synophrys, epicanthal folds, hypertelorism, large ears, depressed nasal bridge, maxillary hypoplasia, long philtrum, and elongated jaw. <b>h:</b> frontal view of Subject 11 (F6-II8) showing elongated face, bitemporal narrowing, thick and arched eyebrows, hypertelorism, large ears, depressed nasal bridge, maxillary hypoplasia, long and smooth philtrum, and elongated jaw.</div>
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<p> Figure 3.. Brain MRI images for subjects… </p>
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<strong class="figure-label">
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<p> Figure 3.. Brain MRI images for subjects with biallelic variants in <i> WDR45B </i> . </p>
|
||
</strong>
|
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<div class="figure-caption-contents"><p> Select MRI brain… </p></div>
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<strong class="figure-label">
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Figure 3.. Brain MRI images for subjects with biallelic variants in <i>WDR45B</i>.
|
||
</strong>
|
||
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|
||
<div class="figure-caption-contents">Select MRI brain images of Subject 1 (a1–4), Subject 2 (b1–4), Subject 4 (c1–4), Subject 5 (d1–4), Subject 6 (e1–3), Subject 7 (f1–4), Subject 8 (g1–4), Subject 9 (h1–4), Subject 11 (i1–4), and Subject 12 (j1–4). First column represents T1-weighted mid-sagittal images; Second column represents T1-weight or T2-weight coronal images; Third column represents T1-weight axial images while the fourth column represents T2-weight axial images. The white horizontal line separates panels a and b (for Subjects 1–2 with missense variant (c.674G>A; p.R225Q) and panels c-h (for the subjects with the loss of function variants) to show the differences in the MRI features seen in both groups. The cerebral atrophy and giant cisterna magna (large white arrow heads) are seen on panels 1a-1j. Corpus callosum thinning (grey arrows) and brainstem volume loss with flattening of belly of pons (grey arrow heads) seen in 1b-1j. Dysplastic hippocampi (black arrows) can be seen on the coronal images on panels 2c-2j. The disproportionate frontal lobe atrophy (white arrows), symmetric under-opercularization (small white arrow heads), and posterior-horn predominance pattern of the ventriculomegaly (grey asterisks) are best seen on panels 3c-3j and 4c-4j.</div>
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<span class="docsum-authors short-authors">Yamamoto H, et al.</span>
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<span class="docsum-journal-citation full-journal-citation">Nat Rev Genet. 2023 Jun;24(6):382-400. doi: 10.1038/s41576-022-00562-w. Epub 2023 Jan 12.</span>
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<span class="docsum-journal-citation full-journal-citation">Front Mol Neurosci. 2022 Sep 9;15:1011918. doi: 10.3389/fnmol.2022.1011918. eCollection 2022.</span>
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Mitani T, Isikay S, Gezdirici A, et al. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021;108(10):1981–2005.
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Mullin AP, Gokhale A, Moreno-De-Luca A, Sanyal S, Waddington JL, Faundez V. Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes. Transl Psychiatry. 2013;3:e329.
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|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Research Support, N.I.H., Extramural"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Research Support, N.I.H., Extramural"[pt]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="mesh-terms" class="mesh-terms keywords-section">
|
||
<h2 class="title">
|
||
MeSH terms
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Atrophy"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Atrophy
|
||
</button><div id="keyword-actions-mesh-terms-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Atrophy"><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=%22Atrophy%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Atrophy%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Atrophy"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Atrophy">
|
||
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=Atrophy"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Atrophy">
|
||
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=""Atrophy"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Atrophy"[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 Bone Diseases, Metabolic"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Bone Diseases, Metabolic
|
||
</button><div id="keyword-actions-mesh-terms-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Bone Diseases, Metabolic"><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=%22Bone+Diseases%2C+Metabolic%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Bone+Diseases%2C+Metabolic%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Bone Diseases, Metabolic"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Bone Diseases, Metabolic">
|
||
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=Bone+Diseases%2C+Metabolic"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Bone Diseases, Metabolic">
|
||
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=""Bone Diseases, Metabolic"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Bone Diseases, Metabolic"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Congenital Disorders of Glycosylation"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Congenital Disorders of Glycosylation
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Congenital Disorders of Glycosylation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Congenital+Disorders+of+Glycosylation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Congenital+Disorders+of+Glycosylation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Congenital Disorders of Glycosylation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Congenital Disorders of Glycosylation">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Congenital+Disorders+of+Glycosylation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Congenital Disorders of Glycosylation">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Congenital Disorders of Glycosylation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Congenital Disorders of Glycosylation"[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 Homozygote"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Homozygote
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Homozygote"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Homozygote%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Homozygote%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Homozygote"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Homozygote">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Homozygote"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Homozygote">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Homozygote"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Homozygote"[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-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-4"
|
||
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 major"
|
||
aria-label="Toggle dropdown menu for keyword Microcephaly* / diagnostic imaging"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Microcephaly* / diagnostic imaging
|
||
</button><div id="keyword-actions-mesh-terms-major-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Microcephaly* / diagnostic imaging"><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=%22Microcephaly%2Fdiagnostic+imaging%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Microcephaly%2Fdiagnostic+imaging%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Microcephaly/diagnostic imaging"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Microcephaly* / diagnostic imaging">
|
||
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=Microcephaly"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Microcephaly* / diagnostic imaging">
|
||
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=""Microcephaly/diagnostic imaging"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Microcephaly/diagnostic imaging"[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 Microcephaly* / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Microcephaly* / genetics
|
||
</button><div id="keyword-actions-mesh-terms-major-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Microcephaly* / 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=%22Microcephaly%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Microcephaly%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Microcephaly/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Microcephaly* / 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=Microcephaly"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Microcephaly* / 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=""Microcephaly/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Microcephaly/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 major"
|
||
aria-label="Toggle dropdown menu for keyword Microcephaly* / pathology"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Microcephaly* / pathology
|
||
</button><div id="keyword-actions-mesh-terms-major-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Microcephaly* / pathology"><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=%22Microcephaly%2Fpathology%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Microcephaly%2Fpathology%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Microcephaly/pathology"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Microcephaly* / pathology">
|
||
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=Microcephaly"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Microcephaly* / pathology">
|
||
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=""Microcephaly/pathology"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Microcephaly/pathology"[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 Nervous System Malformations*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Nervous System Malformations*
|
||
</button><div id="keyword-actions-mesh-terms-major-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Nervous System Malformations*"><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=%22Nervous+System+Malformations%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Nervous+System+Malformations%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Nervous System Malformations"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Nervous System Malformations*">
|
||
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=Nervous+System+Malformations"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Nervous System Malformations*">
|
||
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=""Nervous System Malformations"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Nervous System Malformations"[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 Pedigree"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Pedigree
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Pedigree"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Pedigree">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pedigree"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Pedigree">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Pedigree"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Phenotype"
|
||
tabindex="0"
|
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<li>
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<a
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class="text-white" href="https://www.usa.gov/">USA.gov</a>
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</li>
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</ul>
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</nav>
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</footer>
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<script type="text/javascript">
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var nwds_version = "1.2.3";
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var meta_nwds_ver = document.createElement('meta');
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meta_nwds_ver.content = nwds_version;
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document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
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var meta_nwds = document.createElement('meta');
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meta_nwds.content = 'yes';
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document.getElementsByTagName('head')[0].appendChild(meta_nwds);
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var alertsUrl = "/core/alerts/alerts.js";
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alertsUrl = ncbiBaseUrl + alertsUrl;
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}
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</script>
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<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
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<script>
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ncbi.awesome.basePage.init({
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noSessionCookieName: "pm-ns",
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searchIdCookieName: "pm-sid",
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adjNavSearchIdCookieName: "pm-adjnav-sid",
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searchFormSubmittedCookieName: "pm-sfs",
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isOnSearchPageCookieName: "pm-iosp",
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backToSearchCookieName: "pm-btsl",
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clinicalSeeAllCookieName: "pm-csa",
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jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
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<script type="module">
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import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
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jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
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galert(['body > *:last-child']);
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dismissableNCBIAlert();
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<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
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<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
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