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||
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%2F31949312%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%2F31949312%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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
</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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
|
||
|
||
<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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
<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: 31949312 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 31949312"/>
|
||
<input type="hidden" name="email-subject-hash" value="cf749e6d95d6518a04909b572b3ce53c50730e18c39a5310ad52fd06c8957c81"/>
|
||
</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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
|
||
|
||
<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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
|
||
|
||
<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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
<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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
|
||
|
||
<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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx">
|
||
|
||
<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="31949312">
|
||
<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://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)00851-0"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=31949312&db=pubmed&nlmid=9815831"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="31949312"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-elsevieroa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/31949312/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=31949312&db=pubmed&nlmid=9815831"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="31949312"
|
||
><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="/31949312/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/31949312/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="31949312" 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%2F31949312%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="jbML9bKCe4no5w3boW76cY8Wspo4C3ddAYwQM1dYOFaSZX911fK8G6EA0t6gvELx"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2020 May;22(5):857-866.</span>
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<h1 class="heading-title">
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Defining the clinical phenotype of Saul-Wilson syndrome
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data-ga-label="Heiko Bratke">Heiko Bratke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Internal Medicine, Section of Paediatrics, Haugesund District Hospital, Fonna Health Trust, Haugesund, Norway." href="#full-view-affiliation-10" ref="linksrc=author_aff">
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10
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data-ga-label="Marte Gjøl Haug">Marte Gjøl Haug</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, St. Olav's Hospital, Trondheim, Norway." href="#full-view-affiliation-11" ref="linksrc=author_aff">
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11
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data-ga-label="Luis Rohena">Luis Rohena</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
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12
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, USA." href="#full-view-affiliation-13" ref="linksrc=author_aff">
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13
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14
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data-ga-label="Zhi-Jie Xia">Zhi-Jie Xia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
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15
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data-ga-label="Bobby G Ng">Bobby G Ng</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
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15
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data-ga-label="Hudson H Freeze">Hudson H Freeze</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 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="Melissa Gabriel">Melissa Gabriel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
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16
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16
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data-ga-label="Lauren Brick">Lauren Brick</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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data-ga-label="Mariya Kozenko">Mariya Kozenko</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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data-ga-label="Dawn L Earl">Dawn L Earl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetic Medicine, Seattle Children's, Seattle, WA, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
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18
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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="Emma Tham">Emma Tham</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden." href="#full-view-affiliation-19" ref="linksrc=author_aff">
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19
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden." href="#full-view-affiliation-20" ref="linksrc=author_aff">
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20
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data-ga-label="Gen Nishimura">Gen Nishimura</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan." href="#full-view-affiliation-21" ref="linksrc=author_aff">
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21
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data-ga-label="John A Phillips 3rd">John A Phillips 3rd</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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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="William A Gahl">William A Gahl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
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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="Rizwan Hamid">Rizwan Hamid</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
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22
|
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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="Andrew P Jackson">Andrew P Jackson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
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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=Grigelioniene+G&cauthor_id=31949312"
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data-ga-label="Giedre Grigelioniene">Giedre Grigelioniene</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
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19
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
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20
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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="Michael B Bober">Michael B Bober</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
||
</a></sup></span>
|
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</div>
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Affiliations
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Affiliations
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><sup class="key">1</sup> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. carlos.ferreira@nih.gov.</li>
|
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<li data-affiliation-id="full-view-affiliation-2"
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><sup class="key">4</sup> Center for Genetic Medicine and Research, Children's National Hospital, Washington, DC, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-5"
|
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id="full-view-affiliation-5"
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><sup class="key">5</sup> Department of Pediatrics, University of Virginia Health System, Charlottesville, VA, USA.</li>
|
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|
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><sup class="key">6</sup> Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.</li>
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id="full-view-affiliation-7"
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><sup class="key">7</sup> Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-8"
|
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><sup class="key">8</sup> Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasília-DF, Brazil.</li>
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|
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id="full-view-affiliation-9"
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><sup class="key">9</sup> Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.</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> Department of Internal Medicine, Section of Paediatrics, Haugesund District Hospital, Fonna Health Trust, Haugesund, Norway.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-11"
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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> Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.</li>
|
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<li data-affiliation-id="full-view-affiliation-13"
|
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|
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|
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id="full-view-affiliation-14"
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|
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<li data-affiliation-id="full-view-affiliation-15"
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><sup class="key">15</sup> Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.</li>
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|
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><sup class="key">16</sup> Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA, USA.</li>
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|
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<li data-affiliation-id="full-view-affiliation-18"
|
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><sup class="key">18</sup> Division of Genetic Medicine, Seattle Children's, Seattle, WA, 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 Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.</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> Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</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> Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.</li>
|
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|
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id="full-view-affiliation-22"
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><sup class="key">23</sup> MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.</li>
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|
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Defining the clinical phenotype of Saul-Wilson syndrome
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data-ga-label="Mariya Kozenko">Mariya Kozenko</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada." href="#short-view-affiliation-17" ref="linksrc=author_aff">
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|
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18
|
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|
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19
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
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20
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data-ga-label="Gen Nishimura">Gen Nishimura</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan." href="#short-view-affiliation-21" ref="linksrc=author_aff">
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21
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22
|
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7
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22
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23
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|
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19
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden." href="#short-view-affiliation-20" ref="linksrc=author_aff">
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|
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9
|
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</a></sup></span>
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<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
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<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. carlos.ferreira@nih.gov.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Center for Genetic Medicine and Research, Children's National Hospital, Washington, DC, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Department of Pediatrics, University of Virginia Health System, Charlottesville, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasília-DF, Brazil.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Internal Medicine, Section of Paediatrics, Haugesund District Hospital, Fonna Health Trust, Haugesund, Norway.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Medical Genetics, St. Olav's Hospital, Trondheim, Norway.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Section of Rare Disorders, Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Division of Genetic Medicine, Seattle Children's, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
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|
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PMID:
|
||
|
||
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|
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|
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<strong class="current-id" title="PubMed ID">31949312</strong>
|
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|
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|
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</span>
|
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|
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|
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|
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<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC7205587&id_type=PMC"
|
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href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7205587/"
|
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>
|
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PMC7205587
|
||
</a>
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||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1038/s41436-019-0737-1&id_type=DOI"
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href="https://doi.org/10.1038/s41436-019-0737-1"
|
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data-ga-category="full_text"
|
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|
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>
|
||
10.1038/s41436-019-0737-1
|
||
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|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
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|
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</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
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<div class="abstract" id="abstract">
|
||
|
||
<h2 class="title">
|
||
Abstract
|
||
|
||
</h2>
|
||
|
||
|
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|
||
<div class="abstract-content selected"
|
||
id="eng-abstract">
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Purpose:
|
||
</strong>
|
||
|
||
Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming by providing a detailed characterization of its phenotype.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Methods:
|
||
</strong>
|
||
|
||
Retrospective chart reviews were performed and primary radiographs assessed for all 14 individuals. Four individuals underwent detailed ophthalmologic examination by the same physician. Two individuals underwent gynecologic evaluation. Z-scores for height, weight, head circumference and body mass index were calculated at different ages.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Results:
|
||
</strong>
|
||
|
||
All patients exhibited short stature, with sharp decline from the mean within the first months of life, and a final height Z-score between -4 and -8.5 standard deviations. The facial and radiographic features evolved over time. Intermittent neutropenia was frequently observed. Novel findings included elevation of liver transaminases, skeletal fragility, rod-cone dystrophy, and cystic macular changes.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Conclusions:
|
||
</strong>
|
||
|
||
Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improved understanding of the long-term morbidity of the condition, establishment of follow-up recommendations for affected individuals, and documentation of the natural history into adulthood for comparison with treated patients, when therapeutics become available.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Keywords:
|
||
</strong>
|
||
|
||
COG4; G516R; Saul–Wilson syndrome; phenotype.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
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<p class="disclaimer" id="disclaimer">
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<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
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data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
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||
|
||
<div class="conflict-of-interest" id="conflict-of-interest">
|
||
<h2 class="title">
|
||
Conflict of interest statement
|
||
</h2>
|
||
|
||
<div class="statement">
|
||
|
||
|
||
|
||
<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">Conflict of Interest:</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">The authors declare no conflict of interest.</p>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
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|
||
|
||
<div class="figures" id="figures">
|
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<h2 class="title">
|
||
Figures
|
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</h2>
|
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|
||
<div class="figures-list" id="slides-container"
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<strong class="figure-label">
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<p> Figure 1.. Phenotypic traits of patients with… </p>
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<strong class="figure-label">
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<p> Figure 1.. Phenotypic traits of patients with Saul-Wilson syndrome. </p>
|
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<div class="figure-caption-contents"><p> (A-D) Progeroid features seen in the… </p></div>
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<strong class="figure-label">
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Figure 1.. Phenotypic traits of patients with Saul-Wilson syndrome.
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">(A-D) Progeroid features seen in the first few months of life (A, P2.1; B, P5.1; C, P6.1; D, P7.1). In addition, wrist contractures can be seen in (A), blue sclerae in (A) and (D), and boots and bar treatment for clubfoot in (C). (E-H) Facial features seen during early childhood (E, P1.1; F, P5.1; G, P6.1; H, P10.1). Note prominent, round forehead with prominent scalp veins in all. (I-L) Facial features seen in late childhood (I, P7.1; J, P5.1; K, P6.1; L, P10.1). The forehead is still prominent, but mainly tall rather than round. (M-N) Facial features in adolescence (M, P2.1; N, P7.1). (O-P) Facial features in adulthood (O, P2.1; P, P7.1). (Q-T) Feet in P1.1 at 4 years old (Q), P9.1 at 9 years old (R), P7.1 at 27 years old (S), and P2.1 at 29 years old (T). Note short distal phalanges in all, and metatarsus varus in (Q). (U-X) Hands in P1.1 at 4 years old (U), P4.1 at 5 years old (V), P9.1 at 9 years old (W), and P7.1 at 27 years old (X). Note short distal phalanges of variable degree in all.</div>
|
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|
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<strong class="figure-label">
|
||
<p> Figure 2.. Ophthalmologic findings. </p>
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Clinical imaging of… </p></div>
|
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|
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||
|
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<strong class="figure-label">
|
||
<p> Figure 2.. Ophthalmologic findings. </p>
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Clinical imaging of the ocular fundus, psychophysical testing, and electroretinography in… </p></div>
|
||
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|
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|
||
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<strong class="figure-label">
|
||
Figure 2.. Ophthalmologic findings.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Clinical imaging of the ocular fundus, psychophysical testing, and electroretinography in individuals with Saul-Wilson Syndrome. (A) Color fundus photography (CFP) of left eye of P1.1 obtained under anesthesia using a portable device (RetCam3) and showing mottling of the retinal pigment epithelium (yellow arrows) and an elevated lesion inferior to the optic nerve head (white arrow). Image clarity is reduced by the presence of lamellar cataract. (B) Bioptigen optical coherence tomography indicates preserved central retina including absence of macular cystic changes and normal ellipsoid zone (EZ) layer in P1.1. (C, F) CFP of the right and (I) left eye of affected individuals showing characteristic features of rod-cone dystrophies including attenuated retinal vessels, waxy pallor of optic nerve head, and midperipheral bony spicules (yellow arrowheads) (C, P2.1; F: P7.1; I: P10.1). (D, G) Fundus autofluorescence (FAF) images of the right eye and (J) left eye of affected individuals showing pigment deposition as hypoautofluorescence (yellow arrowheads) and a characteristic hyperautofluorescence ring (white arrowheads) typically seen in rod-cone dystrophies (D: P2.1; G: P:7.1; J: P10.1). (E, H) Cirrus optical coherence tomography scans of the right eye and (K) left eye of affected individuals ranging from an almost normal scan in (E) to loss of ellipsoid zone EZ-band (yellow arrowheads) in (H) as well as presence of macular cystic changes in (H, K) (white arrowheads) (E: P2.1; H: P7.1; K: P10.1). (L, M) Kinetic perimetry of P2.1 and P7.1, respectively, showing different degrees of constriction and midperipheral scotomata. (N) Representative electroretinography (ERG) from P2.1 showing a reduction and delay of the scotopic responses to a greater degree than the photopic ones, confirming the presence of a rod-cone dystrophy.</div>
|
||
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|
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|
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|
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<p> Figure 3.. Length/height expressed as standard deviation… </p>
|
||
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|
||
|
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<strong class="figure-label">
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<p> Figure 3.. Length/height expressed as standard deviation scores. </p>
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Note a sharp decline in SD scores… </p></div>
|
||
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Figure 3.. Length/height expressed as standard deviation scores.
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Note a sharp decline in SD scores during the first few months of life, with an eventual plateau around −4 to −8.5 SD scores. Growth is near or below the mean stature for achondroplasia (dashed line).</div>
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<p> Figure 4.. Radiographs depicting skeletal features of… </p>
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<strong class="figure-label">
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<p> Figure 4.. Radiographs depicting skeletal features of individuals with Saul-Wilson syndrome. </p>
|
||
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|
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|
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<div class="figure-caption-contents"><p> (A-E) Radiographs of lateral… </p></div>
|
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<strong class="figure-label">
|
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Figure 4.. Radiographs depicting skeletal features of individuals with Saul-Wilson syndrome.
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">(A-E) Radiographs of lateral cervical spine in P4.1 at 8 months (A), P5.2 at 1 year 11 months (B), P3.1 at 2 years 6 months (C), P5.1 at 6 years 1 month (D), and P7.1 at 11 years 6 months (E). Note hypoplasia of the odontoid process in all (arrows). (F-J) Radiographs of lateral lumbar spine in P4.1 at 3 months old (F), P6.1 at 5 years 10 months (G), P5.1 at 6 years 7 months (H), P10.1 at 9 years 3 months (I), and P9.1 at 12 years 5 months (J). The vertebral bodies become taller and more irregular with age. Note hypoplasia of L1 in (G, H, I). (K-O) Radiographs of lower extremities in P7.1 at 23 days (K), P10.1 at 9 weeks (L), P8.1 at 6 months (M), P5.2 at 3 years 10 months (N), and P9.1 at 12 years 5 months (O). Note proximal femoral lucencies in the first few months of life (arrows), as well as overtubulation of the long bones with slender diaphyses and metaphyseal flaring in all. (P-T) Radiographs of hands in P4.1 at 3 months (P), P13.1 at 13 months (Q), P6.1 at 6 years 9 months (R), P9.1 at 9 years 8 months (S), and P6.1 at 10 years (T). Note shortening of metacarpals and phalanges and cone-shaped epiphyses of the phalanges in all, accessory ossification centers of the proximal metacarpals (Q, R, T), and the development of squared-off ivory epiphyses (arrows) in late childhood (S, T).</div>
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<p> Figure 5.. Relative frequency of clinical and… </p>
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<strong class="figure-label">
|
||
<p> Figure 5.. Relative frequency of clinical and radiographic findings in Saul-Wilson syndrome. </p>
|
||
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|
||
|
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|
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<div class="figure-caption-contents"><p> AF, anterior fontanelle;… </p></div>
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<strong class="figure-label">
|
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Figure 5.. Relative frequency of clinical and radiographic findings in Saul-Wilson syndrome.
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">AF, anterior fontanelle; ALT, alanine aminotransferase; AST, aspartate aminotransferase.</div>
|
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References
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Saul RA. Unknown cases. Proceedings of the Greenwood Genetic Center. 1982;1(1):102–105.
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Saul RA, Wilson WG. A “new” skeletal dysplasia in two unrelated boys. Am J Med Genet. 1990;35(3):388–393.
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Saul RA, Wilson WG. COMMENTARY-The Saul-Wilson syndrome from its early days until now. Am J Med Genet A. December 2018. doi:10.1002/ajmg.a.8
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Hersh JH, Joyce MR, Spranger J, et al. Microcephalic osteodysplastic dysplasia. Am J Med Genet. 1994;51(3):194–199.
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Ferreira CR, Xia Z-J, Clément A, et al. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018;103(4):553–567. doi:10.1016/j.ajhg.2018.09.003
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