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<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 26471370 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 26471370"/>
<input type="hidden" name="email-subject-hash" value="7c1e36d33d2c08566f34cb9651677e63411bca9e4de96bd01fa3f46cc1c45832"/>
</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="QsHpRRM5PaVlaCV3VyKKlkKGBdoZqzUT7fruuHfrpLIP431TyRnMPsgk9h6bjasd">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="QsHpRRM5PaVlaCV3VyKKlkKGBdoZqzUT7fruuHfrpLIP431TyRnMPsgk9h6bjasd">
<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="QsHpRRM5PaVlaCV3VyKKlkKGBdoZqzUT7fruuHfrpLIP431TyRnMPsgk9h6bjasd">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
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<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="QsHpRRM5PaVlaCV3VyKKlkKGBdoZqzUT7fruuHfrpLIP431TyRnMPsgk9h6bjasd">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
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Full text links
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<div class="full-text-links-list">
<a class="link-item
dialog-focus"
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target="_blank"
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Full text links
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</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="/26471370/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/26471370/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="26471370" 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%2F26471370%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="QsHpRRM5PaVlaCV3VyKKlkKGBdoZqzUT7fruuHfrpLIP431TyRnMPsgk9h6bjasd"><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"
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<h1 class="heading-title">
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
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href="/?term=Fleurence+E&amp;cauthor_id=26471370"
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data-ga-label="Emmanuelle Fleurence">Emmanuelle Fleurence</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. e.fleurence@esean.fr." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. e.fleurence@esean.fr." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ganapathi+M&amp;cauthor_id=26471370"
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data-ga-label="Mythily Ganapathi">Mythily Ganapathi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Columbia University Medical Center, New York, NY, USA. mg3560@cumc.columbia.edu." href="#full-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Gherardi+R&amp;cauthor_id=26471370"
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data-ga-label="Romain Gherardi">Romain Gherardi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="APHP, Service d&#x27;Histologie, INSERM U841, CHU Mondor, Créteil, France. romain.gherardi@hmn.ap-hop-paris.fr." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Goldenberg+A&amp;cauthor_id=26471370"
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data-ga-label="Alice Goldenberg">Alice Goldenberg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Rouen, Hôpital Charles Nicolles, Service de Génétique, Rouen, France. Alice.Goldenberg@chu-rouen.fr." href="#full-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hamel+A&amp;cauthor_id=26471370"
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data-ga-label="Antoine Hamel">Antoine Hamel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Nantes, Service de Chirurgie Infantile, Nantes, France. antoine.hamel@chu-nantes.fr." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Igual+J&amp;cauthor_id=26471370"
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data-ga-label="Jeanine Igual">Jeanine Igual</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CH de Marne la Vallée, Service de Pneumologie, Jossigny, France. jigual.ch-lagny77@apicrypt.fr." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Irvine+AD&amp;cauthor_id=26471370"
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data-ga-label="Alan D Irvine">Alan D Irvine</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. IRVINEA@tcd.ie." href="#full-view-affiliation-29" ref="linksrc=author_aff">
29
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. IRVINEA@tcd.ie." href="#full-view-affiliation-30" ref="linksrc=author_aff">
30
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Medicine, Trinity College Dublin, Dublin, Ireland. IRVINEA@tcd.ie." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Isra%C3%ABl-Biet+D&amp;cauthor_id=26471370"
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data-ga-label="Dominique Israël-Biet">Dominique Israël-Biet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="AP-HP Hôpital Européen Georges Pompidou, Service de pneumologie, Paris, France. dominique.israel-biet@egp.aphp.fr." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kannengiesser+C&amp;cauthor_id=26471370"
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data-ga-label="Caroline Kannengiesser">Caroline Kannengiesser</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="AP-HP, Hôpital Bichat, Service de Génétique, Paris, France. caroline.kannengiesser@bch.aphp.fr." href="#full-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Laboisse+C&amp;cauthor_id=26471370"
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data-ga-label="Christian Laboisse">Christian Laboisse</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. christian.laboisse@chu-nantes.fr." href="#full-view-affiliation-34" ref="linksrc=author_aff">
34
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. christian.laboisse@chu-nantes.fr." href="#full-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Le+Caignec+C&amp;cauthor_id=26471370"
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data-ga-label="Cédric Le Caignec">Cédric Le Caignec</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Service de Génétique Médicale, Unité de Cytogénétique, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. cedric.lecaignec@chu-nantes.fr." href="#full-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mah%C3%A9+JY&amp;cauthor_id=26471370"
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data-ga-label="Jean-Yves Mahé">Jean-Yves Mahé</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. jymahe@wanadoo.fr." href="#full-view-affiliation-37" ref="linksrc=author_aff">
37
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. jymahe@wanadoo.fr." href="#full-view-affiliation-38" ref="linksrc=author_aff">
38
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mallet+S&amp;cauthor_id=26471370"
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data-ga-label="Stéphanie Mallet">Stéphanie Mallet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Dermatologie, Hôpital La Timone, Aix Marseille Université, Provence, France. Stephanie.MALLET@ap-hm.fr." href="#full-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=MacGowan+S&amp;cauthor_id=26471370"
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data-ga-label="Stuart MacGowan">Stuart MacGowan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Computational Biology, College of Life Sciences, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk." href="#full-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McAleer+MA&amp;cauthor_id=26471370"
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data-ga-label="Maeve A McAleer">Maeve A McAleer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. maeve_mc_aleer@hotmail.com." href="#full-view-affiliation-42" ref="linksrc=author_aff">
42
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. maeve_mc_aleer@hotmail.com." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McLean+I&amp;cauthor_id=26471370"
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data-ga-label="Irwin McLean">Irwin McLean</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. w.h.i.mclean@dundee.ac.uk." href="#full-view-affiliation-44" ref="linksrc=author_aff">
44
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=M%C3%A9ni+C&amp;cauthor_id=26471370"
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data-ga-label="Cécile Méni">Cécile Méni</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. cecile.meni@nck.aphp.fr." href="#full-view-affiliation-45" ref="linksrc=author_aff">
45
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munnich+A&amp;cauthor_id=26471370"
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data-ga-label="Arnold Munnich">Arnold Munnich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. arnold.munnich@inserm.fr." href="#full-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mussini+JM&amp;cauthor_id=26471370"
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data-ga-label="Jean-Marie Mussini">Jean-Marie Mussini</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. docteur.mussini@wanadoo.fr." href="#full-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nagy+PL&amp;cauthor_id=26471370"
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data-ga-label="Peter L Nagy">Peter L Nagy</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Personalized Genomic Medicine, Columbia University Medical Center, New York, NY, USA. pln2104@cumc.columbia.edu." href="#full-view-affiliation-48" ref="linksrc=author_aff">
48
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Odel+J&amp;cauthor_id=26471370"
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data-ga-label="Jeffrey Odel">Jeffrey Odel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA. jgo1@cumc.columbia.edu." href="#full-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=O%27Regan+GM&amp;cauthor_id=26471370"
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data-ga-label="Grainne M O&#x27;Regan">Grainne M O&#x27;Regan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. grainne.oregan@olchc.ie." href="#full-view-affiliation-50" ref="linksrc=author_aff">
50
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=P%C3%A9r%C3%A9on+Y&amp;cauthor_id=26471370"
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data-ga-label="Yann Péréon">Yann Péréon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. yann.pereon@univ-nantes.fr." href="#full-view-affiliation-51" ref="linksrc=author_aff">
51
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. yann.pereon@univ-nantes.fr." href="#full-view-affiliation-52" ref="linksrc=author_aff">
52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Perrier+J&amp;cauthor_id=26471370"
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data-ga-label="Julie Perrier">Julie Perrier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. dr.perrier@pediatrieromainrolland.fr." href="#full-view-affiliation-53" ref="linksrc=author_aff">
53
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Piard+J&amp;cauthor_id=26471370"
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data-ga-label="Juliette Piard">Juliette Piard</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Besançon, Service de Génétique Médicale, Besançon, France. jpiard@chu-besancon.fr." href="#full-view-affiliation-54" ref="linksrc=author_aff">
54
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Puzenat+E&amp;cauthor_id=26471370"
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data-ga-action="author_link"
data-ga-label="Eve Puzenat">Eve Puzenat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Besançon, Service de Dermatologie, Besançon, France. epuzenat@chu-besancon.fr." href="#full-view-affiliation-55" ref="linksrc=author_aff">
55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sampson+JB&amp;cauthor_id=26471370"
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data-ga-label="Jacinda B Sampson">Jacinda B Sampson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Columbia University Medical Center, New York, NY, USA. js4171@cumc.columbia.edu." href="#full-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Smith+F&amp;cauthor_id=26471370"
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data-ga-label="Frances Smith">Frances Smith</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Dermatology and Genetic Medicine, University of Dundee, Dundee, UK. f.j.d.smith@dundee.ac.uk." href="#full-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Soufir+N&amp;cauthor_id=26471370"
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data-ga-action="author_link"
data-ga-label="Nadem Soufir">Nadem Soufir</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="AP-HP, Hôpital Bichat, Service de Génétique, INSERM U976, Paris, France. nadem.soufir@bch.aphp.fr." href="#full-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tanji+K&amp;cauthor_id=26471370"
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data-ga-label="Kurenai Tanji">Kurenai Tanji</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Neuropathology, Columbia University Medical Center, New York, NY, USA. kt8@cumc.columbia.edu." href="#full-view-affiliation-59" ref="linksrc=author_aff">
59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thauvin+C&amp;cauthor_id=26471370"
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data-ga-label="Christel Thauvin">Christel Thauvin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr." href="#full-view-affiliation-60" ref="linksrc=author_aff">
60
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr." href="#full-view-affiliation-61" ref="linksrc=author_aff">
61
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ulane+C&amp;cauthor_id=26471370"
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data-ga-label="Christina Ulane">Christina Ulane</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Columbia University Medical Center, New York, NY, USA. cu2119@cumc.columbia.edu." href="#full-view-affiliation-62" ref="linksrc=author_aff">
62
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Watson+RM&amp;cauthor_id=26471370"
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data-ga-action="author_link"
data-ga-label="Rosemarie M Watson">Rosemarie M Watson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. Rosemarie.Watson@olchc.ie." href="#full-view-affiliation-63" ref="linksrc=author_aff">
63
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Khumalo+NP&amp;cauthor_id=26471370"
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data-ga-label="Nonhlanhla P Khumalo">Nonhlanhla P Khumalo</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. n.khumalo@uct.ac.za." href="#full-view-affiliation-64" ref="linksrc=author_aff">
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data-ga-label="Bongani M Mayosi">Bongani M Mayosi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. bongani.mayosi@uct.ac.za." href="#full-view-affiliation-65" ref="linksrc=author_aff">
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data-ga-label="Sébastien Barbarot">Sébastien Barbarot</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, 44000, Nantes, France. sebastien.barbarot@chu-nantes.fr." href="#full-view-affiliation-66" ref="linksrc=author_aff">
66
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data-ga-label="Stéphane Bézieau">Stéphane Bézieau</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. stephane.bezieau@chu-nantes.fr." href="#full-view-affiliation-67" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. stephane.bezieau@chu-nantes.fr." href="#full-view-affiliation-68" ref="linksrc=author_aff">
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<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> CHU de Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Ouest, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> INSERM UMR1089, Atlantic Gene Therapy Institute, University of Nantes, Nantes, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. sebastien.kury@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Hôpital de la Timone, Service de Neurologie, Centre de Référence des maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Marseille, France. Emmanuelle.SALORT-CAMPANA@ap-hm.fr.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. armelle.magot@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-7"
id="full-view-affiliation-7"
><sup class="key">7</sup> CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. armelle.magot@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-8"
id="full-view-affiliation-8"
><sup class="key">8</sup> Department of Medicine, Columbia University Medical Center, New York, NY, USA. uaa2104@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-9"
id="full-view-affiliation-9"
><sup class="key">9</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. thomas.besnard@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. nathalie.bodak@gmail.com.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. Chantal.Bou-Hanna@univ-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-12"
id="full-view-affiliation-12"
><sup class="key">12</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. flora.breheret@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-13"
id="full-view-affiliation-13"
><sup class="key">13</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. perrine.brunelle@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-14"
id="full-view-affiliation-14"
><sup class="key">14</sup> CHU Nantes, Service de Radiologie, CHU Nantes, Nantes, F-44000, France. florence.caillon@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-15"
id="full-view-affiliation-15"
><sup class="key">15</sup> Service de neuropédiatrie, Hôpital Timone, Aix-Marseille Université, Marseille, France. b.chabrol@ap-hm.fr.</li>
<li data-affiliation-id="full-view-affiliation-16"
id="full-view-affiliation-16"
><sup class="key">16</sup> Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. valerie.cormier-daire@inserm.fr.</li>
<li data-affiliation-id="full-view-affiliation-17"
id="full-view-affiliation-17"
><sup class="key">17</sup> CHU de Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Ouest, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. albert.david@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-18"
id="full-view-affiliation-18"
><sup class="key">18</sup> Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpétrière, AP-HP, Paris, France. anne-marie.maronne@psl.aphp.fr.</li>
<li data-affiliation-id="full-view-affiliation-19"
id="full-view-affiliation-19"
><sup class="key">19</sup> Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.</li>
<li data-affiliation-id="full-view-affiliation-20"
id="full-view-affiliation-20"
><sup class="key">20</sup> Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. laurence.faivre@chu-dijon.fr.</li>
<li data-affiliation-id="full-view-affiliation-21"
id="full-view-affiliation-21"
><sup class="key">21</sup> Laboratoire de Neuropathologie, Faculté de Médecine, CHU Timone, Marseille, France. dominique.Figarella-Branger@medecine.univ-mrs.fr.</li>
<li data-affiliation-id="full-view-affiliation-22"
id="full-view-affiliation-22"
><sup class="key">22</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. e.fleurence@esean.fr.</li>
<li data-affiliation-id="full-view-affiliation-23"
id="full-view-affiliation-23"
><sup class="key">23</sup> Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. e.fleurence@esean.fr.</li>
<li data-affiliation-id="full-view-affiliation-24"
id="full-view-affiliation-24"
><sup class="key">24</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. mg3560@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-25"
id="full-view-affiliation-25"
><sup class="key">25</sup> APHP, Service d&#x27;Histologie, INSERM U841, CHU Mondor, Créteil, France. romain.gherardi@hmn.ap-hop-paris.fr.</li>
<li data-affiliation-id="full-view-affiliation-26"
id="full-view-affiliation-26"
><sup class="key">26</sup> CHU de Rouen, Hôpital Charles Nicolles, Service de Génétique, Rouen, France. Alice.Goldenberg@chu-rouen.fr.</li>
<li data-affiliation-id="full-view-affiliation-27"
id="full-view-affiliation-27"
><sup class="key">27</sup> CHU de Nantes, Service de Chirurgie Infantile, Nantes, France. antoine.hamel@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-28"
id="full-view-affiliation-28"
><sup class="key">28</sup> CH de Marne la Vallée, Service de Pneumologie, Jossigny, France. jigual.ch-lagny77@apicrypt.fr.</li>
<li data-affiliation-id="full-view-affiliation-29"
id="full-view-affiliation-29"
><sup class="key">29</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="full-view-affiliation-30"
id="full-view-affiliation-30"
><sup class="key">30</sup> National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="full-view-affiliation-31"
id="full-view-affiliation-31"
><sup class="key">31</sup> Clinical Medicine, Trinity College Dublin, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="full-view-affiliation-32"
id="full-view-affiliation-32"
><sup class="key">32</sup> AP-HP Hôpital Européen Georges Pompidou, Service de pneumologie, Paris, France. dominique.israel-biet@egp.aphp.fr.</li>
<li data-affiliation-id="full-view-affiliation-33"
id="full-view-affiliation-33"
><sup class="key">33</sup> AP-HP, Hôpital Bichat, Service de Génétique, Paris, France. caroline.kannengiesser@bch.aphp.fr.</li>
<li data-affiliation-id="full-view-affiliation-34"
id="full-view-affiliation-34"
><sup class="key">34</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. christian.laboisse@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-35"
id="full-view-affiliation-35"
><sup class="key">35</sup> Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. christian.laboisse@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-36"
id="full-view-affiliation-36"
><sup class="key">36</sup> CHU Nantes, Service de Génétique Médicale, Unité de Cytogénétique, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. cedric.lecaignec@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-37"
id="full-view-affiliation-37"
><sup class="key">37</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. jymahe@wanadoo.fr.</li>
<li data-affiliation-id="full-view-affiliation-38"
id="full-view-affiliation-38"
><sup class="key">38</sup> Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. jymahe@wanadoo.fr.</li>
<li data-affiliation-id="full-view-affiliation-39"
id="full-view-affiliation-39"
><sup class="key">39</sup> Service de Dermatologie, Hôpital La Timone, Aix Marseille Université, Provence, France. Stephanie.MALLET@ap-hm.fr.</li>
<li data-affiliation-id="full-view-affiliation-40"
id="full-view-affiliation-40"
><sup class="key">40</sup> Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk.</li>
<li data-affiliation-id="full-view-affiliation-41"
id="full-view-affiliation-41"
><sup class="key">41</sup> Division of Computational Biology, College of Life Sciences, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk.</li>
<li data-affiliation-id="full-view-affiliation-42"
id="full-view-affiliation-42"
><sup class="key">42</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. maeve_mc_aleer@hotmail.com.</li>
<li data-affiliation-id="full-view-affiliation-43"
id="full-view-affiliation-43"
><sup class="key">43</sup> National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. maeve_mc_aleer@hotmail.com.</li>
<li data-affiliation-id="full-view-affiliation-44"
id="full-view-affiliation-44"
><sup class="key">44</sup> Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. w.h.i.mclean@dundee.ac.uk.</li>
<li data-affiliation-id="full-view-affiliation-45"
id="full-view-affiliation-45"
><sup class="key">45</sup> Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. cecile.meni@nck.aphp.fr.</li>
<li data-affiliation-id="full-view-affiliation-46"
id="full-view-affiliation-46"
><sup class="key">46</sup> Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. arnold.munnich@inserm.fr.</li>
<li data-affiliation-id="full-view-affiliation-47"
id="full-view-affiliation-47"
><sup class="key">47</sup> Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. docteur.mussini@wanadoo.fr.</li>
<li data-affiliation-id="full-view-affiliation-48"
id="full-view-affiliation-48"
><sup class="key">48</sup> Department of Pathology and Cell Biology, Personalized Genomic Medicine, Columbia University Medical Center, New York, NY, USA. pln2104@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-49"
id="full-view-affiliation-49"
><sup class="key">49</sup> Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA. jgo1@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-50"
id="full-view-affiliation-50"
><sup class="key">50</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. grainne.oregan@olchc.ie.</li>
<li data-affiliation-id="full-view-affiliation-51"
id="full-view-affiliation-51"
><sup class="key">51</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. yann.pereon@univ-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-52"
id="full-view-affiliation-52"
><sup class="key">52</sup> CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. yann.pereon@univ-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-53"
id="full-view-affiliation-53"
><sup class="key">53</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. dr.perrier@pediatrieromainrolland.fr.</li>
<li data-affiliation-id="full-view-affiliation-54"
id="full-view-affiliation-54"
><sup class="key">54</sup> CHU de Besançon, Service de Génétique Médicale, Besançon, France. jpiard@chu-besancon.fr.</li>
<li data-affiliation-id="full-view-affiliation-55"
id="full-view-affiliation-55"
><sup class="key">55</sup> CHU de Besançon, Service de Dermatologie, Besançon, France. epuzenat@chu-besancon.fr.</li>
<li data-affiliation-id="full-view-affiliation-56"
id="full-view-affiliation-56"
><sup class="key">56</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. js4171@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-57"
id="full-view-affiliation-57"
><sup class="key">57</sup> Dermatology and Genetic Medicine, University of Dundee, Dundee, UK. f.j.d.smith@dundee.ac.uk.</li>
<li data-affiliation-id="full-view-affiliation-58"
id="full-view-affiliation-58"
><sup class="key">58</sup> AP-HP, Hôpital Bichat, Service de Génétique, INSERM U976, Paris, France. nadem.soufir@bch.aphp.fr.</li>
<li data-affiliation-id="full-view-affiliation-59"
id="full-view-affiliation-59"
><sup class="key">59</sup> Division of Neuropathology, Columbia University Medical Center, New York, NY, USA. kt8@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-60"
id="full-view-affiliation-60"
><sup class="key">60</sup> Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr.</li>
<li data-affiliation-id="full-view-affiliation-61"
id="full-view-affiliation-61"
><sup class="key">61</sup> Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr.</li>
<li data-affiliation-id="full-view-affiliation-62"
id="full-view-affiliation-62"
><sup class="key">62</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. cu2119@cumc.columbia.edu.</li>
<li data-affiliation-id="full-view-affiliation-63"
id="full-view-affiliation-63"
><sup class="key">63</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. Rosemarie.Watson@olchc.ie.</li>
<li data-affiliation-id="full-view-affiliation-64"
id="full-view-affiliation-64"
><sup class="key">64</sup> Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. n.khumalo@uct.ac.za.</li>
<li data-affiliation-id="full-view-affiliation-65"
id="full-view-affiliation-65"
><sup class="key">65</sup> Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. bongani.mayosi@uct.ac.za.</li>
<li data-affiliation-id="full-view-affiliation-66"
id="full-view-affiliation-66"
><sup class="key">66</sup> CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, 44000, Nantes, France. sebastien.barbarot@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-67"
id="full-view-affiliation-67"
><sup class="key">67</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. stephane.bezieau@chu-nantes.fr.</li>
<li data-affiliation-id="full-view-affiliation-68"
id="full-view-affiliation-68"
><sup class="key">68</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. stephane.bezieau@chu-nantes.fr.</li>
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
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<span class="authors-list-item "><span class="full-name">Sandra Mercier</span><span class="citation-separator">&nbsp;et al.</span></span>
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<span class="authors-list-item "><a class="full-name"
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data-ga-label="Sandra Mercier">Sandra Mercier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Ouest, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. sandra.mercier@chu-nantes.fr." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR1089, Atlantic Gene Therapy Institute, University of Nantes, Nantes, France. sandra.mercier@chu-nantes.fr." href="#short-view-affiliation-2" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. sandra.mercier@chu-nantes.fr." href="#short-view-affiliation-3" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. armelle.magot@chu-nantes.fr." href="#short-view-affiliation-7" ref="linksrc=author_aff">
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data-ga-label="Alan D Irvine">Alan D Irvine</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. IRVINEA@tcd.ie." href="#short-view-affiliation-29" ref="linksrc=author_aff">
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data-ga-label="Christian Laboisse">Christian Laboisse</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. christian.laboisse@chu-nantes.fr." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. christian.laboisse@chu-nantes.fr." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Le+Caignec+C&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cédric Le Caignec">Cédric Le Caignec</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Service de Génétique Médicale, Unité de Cytogénétique, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. cedric.lecaignec@chu-nantes.fr." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mah%C3%A9+JY&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jean-Yves Mahé">Jean-Yves Mahé</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. jymahe@wanadoo.fr." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. jymahe@wanadoo.fr." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mallet+S&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stéphanie Mallet">Stéphanie Mallet</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Service de Dermatologie, Hôpital La Timone, Aix Marseille Université, Provence, France. Stephanie.MALLET@ap-hm.fr." href="#short-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=MacGowan+S&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stuart MacGowan">Stuart MacGowan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Computational Biology, College of Life Sciences, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk." href="#short-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McAleer+MA&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Maeve A McAleer">Maeve A McAleer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. maeve_mc_aleer@hotmail.com." href="#short-view-affiliation-42" ref="linksrc=author_aff">
42
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. maeve_mc_aleer@hotmail.com." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=McLean+I&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Irwin McLean">Irwin McLean</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. w.h.i.mclean@dundee.ac.uk." href="#short-view-affiliation-44" ref="linksrc=author_aff">
44
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=M%C3%A9ni+C&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cécile Méni">Cécile Méni</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. cecile.meni@nck.aphp.fr." href="#short-view-affiliation-45" ref="linksrc=author_aff">
45
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Munnich+A&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Arnold Munnich">Arnold Munnich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. arnold.munnich@inserm.fr." href="#short-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mussini+JM&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jean-Marie Mussini">Jean-Marie Mussini</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. docteur.mussini@wanadoo.fr." href="#short-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nagy+PL&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Peter L Nagy">Peter L Nagy</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Personalized Genomic Medicine, Columbia University Medical Center, New York, NY, USA. pln2104@cumc.columbia.edu." href="#short-view-affiliation-48" ref="linksrc=author_aff">
48
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Odel+J&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jeffrey Odel">Jeffrey Odel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA. jgo1@cumc.columbia.edu." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=O%27Regan+GM&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Grainne M O&#x27;Regan">Grainne M O&#x27;Regan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. grainne.oregan@olchc.ie." href="#short-view-affiliation-50" ref="linksrc=author_aff">
50
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=P%C3%A9r%C3%A9on+Y&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Yann Péréon">Yann Péréon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. yann.pereon@univ-nantes.fr." href="#short-view-affiliation-51" ref="linksrc=author_aff">
51
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. yann.pereon@univ-nantes.fr." href="#short-view-affiliation-52" ref="linksrc=author_aff">
52
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Perrier+J&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Julie Perrier">Julie Perrier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. dr.perrier@pediatrieromainrolland.fr." href="#short-view-affiliation-53" ref="linksrc=author_aff">
53
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Piard+J&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Juliette Piard">Juliette Piard</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Besançon, Service de Génétique Médicale, Besançon, France. jpiard@chu-besancon.fr." href="#short-view-affiliation-54" ref="linksrc=author_aff">
54
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Puzenat+E&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Eve Puzenat">Eve Puzenat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU de Besançon, Service de Dermatologie, Besançon, France. epuzenat@chu-besancon.fr." href="#short-view-affiliation-55" ref="linksrc=author_aff">
55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sampson+JB&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Jacinda B Sampson">Jacinda B Sampson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Columbia University Medical Center, New York, NY, USA. js4171@cumc.columbia.edu." href="#short-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Smith+F&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Frances Smith">Frances Smith</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Dermatology and Genetic Medicine, University of Dundee, Dundee, UK. f.j.d.smith@dundee.ac.uk." href="#short-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Soufir+N&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nadem Soufir">Nadem Soufir</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="AP-HP, Hôpital Bichat, Service de Génétique, INSERM U976, Paris, France. nadem.soufir@bch.aphp.fr." href="#short-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tanji+K&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Kurenai Tanji">Kurenai Tanji</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Neuropathology, Columbia University Medical Center, New York, NY, USA. kt8@cumc.columbia.edu." href="#short-view-affiliation-59" ref="linksrc=author_aff">
59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thauvin+C&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christel Thauvin">Christel Thauvin</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr." href="#short-view-affiliation-60" ref="linksrc=author_aff">
60
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr." href="#short-view-affiliation-61" ref="linksrc=author_aff">
61
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ulane+C&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christina Ulane">Christina Ulane</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Columbia University Medical Center, New York, NY, USA. cu2119@cumc.columbia.edu." href="#short-view-affiliation-62" ref="linksrc=author_aff">
62
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Watson+RM&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Rosemarie M Watson">Rosemarie M Watson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. Rosemarie.Watson@olchc.ie." href="#short-view-affiliation-63" ref="linksrc=author_aff">
63
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Khumalo+NP&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nonhlanhla P Khumalo">Nonhlanhla P Khumalo</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. n.khumalo@uct.ac.za." href="#short-view-affiliation-64" ref="linksrc=author_aff">
64
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mayosi+BM&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Bongani M Mayosi">Bongani M Mayosi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. bongani.mayosi@uct.ac.za." href="#short-view-affiliation-65" ref="linksrc=author_aff">
65
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Barbarot+S&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Sébastien Barbarot">Sébastien Barbarot</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, 44000, Nantes, France. sebastien.barbarot@chu-nantes.fr." href="#short-view-affiliation-66" ref="linksrc=author_aff">
66
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=B%C3%A9zieau+S&amp;cauthor_id=26471370"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stéphane Bézieau">Stéphane Bézieau</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. stephane.bezieau@chu-nantes.fr." href="#short-view-affiliation-67" ref="linksrc=author_aff">
67
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. stephane.bezieau@chu-nantes.fr." href="#short-view-affiliation-68" ref="linksrc=author_aff">
68
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> CHU de Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Ouest, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> INSERM UMR1089, Atlantic Gene Therapy Institute, University of Nantes, Nantes, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. sandra.mercier@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. sebastien.kury@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Hôpital de la Timone, Service de Neurologie, Centre de Référence des maladies Neuromusculaires et Sclérose Latérale Amyotrophique, Marseille, France. Emmanuelle.SALORT-CAMPANA@ap-hm.fr.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. armelle.magot@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. armelle.magot@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Department of Medicine, Columbia University Medical Center, New York, NY, USA. uaa2104@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. thomas.besnard@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. nathalie.bodak@gmail.com.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. Chantal.Bou-Hanna@univ-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-12"
id="short-view-affiliation-12"
><sup class="key">12</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. flora.breheret@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-13"
id="short-view-affiliation-13"
><sup class="key">13</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. perrine.brunelle@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-14"
id="short-view-affiliation-14"
><sup class="key">14</sup> CHU Nantes, Service de Radiologie, CHU Nantes, Nantes, F-44000, France. florence.caillon@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Service de neuropédiatrie, Hôpital Timone, Aix-Marseille Université, Marseille, France. b.chabrol@ap-hm.fr.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. valerie.cormier-daire@inserm.fr.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> CHU de Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Ouest, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. albert.david@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpétrière, AP-HP, Paris, France. anne-marie.maronne@psl.aphp.fr.</li>
<li data-affiliation-id="short-view-affiliation-19"
id="short-view-affiliation-19"
><sup class="key">19</sup> Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.</li>
<li data-affiliation-id="short-view-affiliation-20"
id="short-view-affiliation-20"
><sup class="key">20</sup> Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. laurence.faivre@chu-dijon.fr.</li>
<li data-affiliation-id="short-view-affiliation-21"
id="short-view-affiliation-21"
><sup class="key">21</sup> Laboratoire de Neuropathologie, Faculté de Médecine, CHU Timone, Marseille, France. dominique.Figarella-Branger@medecine.univ-mrs.fr.</li>
<li data-affiliation-id="short-view-affiliation-22"
id="short-view-affiliation-22"
><sup class="key">22</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. e.fleurence@esean.fr.</li>
<li data-affiliation-id="short-view-affiliation-23"
id="short-view-affiliation-23"
><sup class="key">23</sup> Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. e.fleurence@esean.fr.</li>
<li data-affiliation-id="short-view-affiliation-24"
id="short-view-affiliation-24"
><sup class="key">24</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. mg3560@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-25"
id="short-view-affiliation-25"
><sup class="key">25</sup> APHP, Service d&#x27;Histologie, INSERM U841, CHU Mondor, Créteil, France. romain.gherardi@hmn.ap-hop-paris.fr.</li>
<li data-affiliation-id="short-view-affiliation-26"
id="short-view-affiliation-26"
><sup class="key">26</sup> CHU de Rouen, Hôpital Charles Nicolles, Service de Génétique, Rouen, France. Alice.Goldenberg@chu-rouen.fr.</li>
<li data-affiliation-id="short-view-affiliation-27"
id="short-view-affiliation-27"
><sup class="key">27</sup> CHU de Nantes, Service de Chirurgie Infantile, Nantes, France. antoine.hamel@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-28"
id="short-view-affiliation-28"
><sup class="key">28</sup> CH de Marne la Vallée, Service de Pneumologie, Jossigny, France. jigual.ch-lagny77@apicrypt.fr.</li>
<li data-affiliation-id="short-view-affiliation-29"
id="short-view-affiliation-29"
><sup class="key">29</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="short-view-affiliation-30"
id="short-view-affiliation-30"
><sup class="key">30</sup> National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="short-view-affiliation-31"
id="short-view-affiliation-31"
><sup class="key">31</sup> Clinical Medicine, Trinity College Dublin, Dublin, Ireland. IRVINEA@tcd.ie.</li>
<li data-affiliation-id="short-view-affiliation-32"
id="short-view-affiliation-32"
><sup class="key">32</sup> AP-HP Hôpital Européen Georges Pompidou, Service de pneumologie, Paris, France. dominique.israel-biet@egp.aphp.fr.</li>
<li data-affiliation-id="short-view-affiliation-33"
id="short-view-affiliation-33"
><sup class="key">33</sup> AP-HP, Hôpital Bichat, Service de Génétique, Paris, France. caroline.kannengiesser@bch.aphp.fr.</li>
<li data-affiliation-id="short-view-affiliation-34"
id="short-view-affiliation-34"
><sup class="key">34</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. christian.laboisse@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-35"
id="short-view-affiliation-35"
><sup class="key">35</sup> Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. christian.laboisse@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-36"
id="short-view-affiliation-36"
><sup class="key">36</sup> CHU Nantes, Service de Génétique Médicale, Unité de Cytogénétique, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. cedric.lecaignec@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-37"
id="short-view-affiliation-37"
><sup class="key">37</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. jymahe@wanadoo.fr.</li>
<li data-affiliation-id="short-view-affiliation-38"
id="short-view-affiliation-38"
><sup class="key">38</sup> Etablissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. jymahe@wanadoo.fr.</li>
<li data-affiliation-id="short-view-affiliation-39"
id="short-view-affiliation-39"
><sup class="key">39</sup> Service de Dermatologie, Hôpital La Timone, Aix Marseille Université, Provence, France. Stephanie.MALLET@ap-hm.fr.</li>
<li data-affiliation-id="short-view-affiliation-40"
id="short-view-affiliation-40"
><sup class="key">40</sup> Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk.</li>
<li data-affiliation-id="short-view-affiliation-41"
id="short-view-affiliation-41"
><sup class="key">41</sup> Division of Computational Biology, College of Life Sciences, University of Dundee, Dundee, UK. s.macgowan@dundee.ac.uk.</li>
<li data-affiliation-id="short-view-affiliation-42"
id="short-view-affiliation-42"
><sup class="key">42</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. maeve_mc_aleer@hotmail.com.</li>
<li data-affiliation-id="short-view-affiliation-43"
id="short-view-affiliation-43"
><sup class="key">43</sup> National Children&#x27;s Research Centre, Our Lady&#x27;s Children&#x27;s Hospital, Dublin, Ireland. maeve_mc_aleer@hotmail.com.</li>
<li data-affiliation-id="short-view-affiliation-44"
id="short-view-affiliation-44"
><sup class="key">44</sup> Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry &amp; Nursing, University of Dundee, Dundee, UK. w.h.i.mclean@dundee.ac.uk.</li>
<li data-affiliation-id="short-view-affiliation-45"
id="short-view-affiliation-45"
><sup class="key">45</sup> Hôpital Necker Enfants Malades, AP-HP, Service de Dermatologie, Paris, France. cecile.meni@nck.aphp.fr.</li>
<li data-affiliation-id="short-view-affiliation-46"
id="short-view-affiliation-46"
><sup class="key">46</sup> Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. arnold.munnich@inserm.fr.</li>
<li data-affiliation-id="short-view-affiliation-47"
id="short-view-affiliation-47"
><sup class="key">47</sup> Laboratoire d&#x27;Anatomopathologie A, Faculté de Médecine, Université de Nantes, 1, rue Gaston Veil, Nantes Cedex, 44035, France. docteur.mussini@wanadoo.fr.</li>
<li data-affiliation-id="short-view-affiliation-48"
id="short-view-affiliation-48"
><sup class="key">48</sup> Department of Pathology and Cell Biology, Personalized Genomic Medicine, Columbia University Medical Center, New York, NY, USA. pln2104@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-49"
id="short-view-affiliation-49"
><sup class="key">49</sup> Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA. jgo1@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-50"
id="short-view-affiliation-50"
><sup class="key">50</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. grainne.oregan@olchc.ie.</li>
<li data-affiliation-id="short-view-affiliation-51"
id="short-view-affiliation-51"
><sup class="key">51</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. yann.pereon@univ-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-52"
id="short-view-affiliation-52"
><sup class="key">52</sup> CHU de Nantes, Laboratoire d&#x27;Explorations Fonctionnelles, Nantes, F-44000, France. yann.pereon@univ-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-53"
id="short-view-affiliation-53"
><sup class="key">53</sup> Centre de Référence des Maladies Neuromusculaires Rares de l&#x27;Enfant et de l&#x27;Adulte Nantes-Angers, Nantes, F-44000, France. dr.perrier@pediatrieromainrolland.fr.</li>
<li data-affiliation-id="short-view-affiliation-54"
id="short-view-affiliation-54"
><sup class="key">54</sup> CHU de Besançon, Service de Génétique Médicale, Besançon, France. jpiard@chu-besancon.fr.</li>
<li data-affiliation-id="short-view-affiliation-55"
id="short-view-affiliation-55"
><sup class="key">55</sup> CHU de Besançon, Service de Dermatologie, Besançon, France. epuzenat@chu-besancon.fr.</li>
<li data-affiliation-id="short-view-affiliation-56"
id="short-view-affiliation-56"
><sup class="key">56</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. js4171@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-57"
id="short-view-affiliation-57"
><sup class="key">57</sup> Dermatology and Genetic Medicine, University of Dundee, Dundee, UK. f.j.d.smith@dundee.ac.uk.</li>
<li data-affiliation-id="short-view-affiliation-58"
id="short-view-affiliation-58"
><sup class="key">58</sup> AP-HP, Hôpital Bichat, Service de Génétique, INSERM U976, Paris, France. nadem.soufir@bch.aphp.fr.</li>
<li data-affiliation-id="short-view-affiliation-59"
id="short-view-affiliation-59"
><sup class="key">59</sup> Division of Neuropathology, Columbia University Medical Center, New York, NY, USA. kt8@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-60"
id="short-view-affiliation-60"
><sup class="key">60</sup> Equipe d&#x27;accueil EA 4271 GAD &quot;Génétique des Anomalies du Développement&quot;, IFR Santé STIC, Université de Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr.</li>
<li data-affiliation-id="short-view-affiliation-61"
id="short-view-affiliation-61"
><sup class="key">61</sup> Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l&#x27;interrégion Grand-Est et Centre de Génétique, Hôpital d&#x27;Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr.</li>
<li data-affiliation-id="short-view-affiliation-62"
id="short-view-affiliation-62"
><sup class="key">62</sup> Department of Neurology, Columbia University Medical Center, New York, NY, USA. cu2119@cumc.columbia.edu.</li>
<li data-affiliation-id="short-view-affiliation-63"
id="short-view-affiliation-63"
><sup class="key">63</sup> Department of Paediatric Dermatology, Our Lady&#x27;s Children&#x27;s Hospital Crumlin, Dublin, Ireland. Rosemarie.Watson@olchc.ie.</li>
<li data-affiliation-id="short-view-affiliation-64"
id="short-view-affiliation-64"
><sup class="key">64</sup> Division of Dermatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. n.khumalo@uct.ac.za.</li>
<li data-affiliation-id="short-view-affiliation-65"
id="short-view-affiliation-65"
><sup class="key">65</sup> Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa. bongani.mayosi@uct.ac.za.</li>
<li data-affiliation-id="short-view-affiliation-66"
id="short-view-affiliation-66"
><sup class="key">66</sup> CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, 44000, Nantes, France. sebastien.barbarot@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-67"
id="short-view-affiliation-67"
><sup class="key">67</sup> CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. stephane.bezieau@chu-nantes.fr.</li>
<li data-affiliation-id="short-view-affiliation-68"
id="short-view-affiliation-68"
><sup class="key">68</sup> Equipe d&#x27;accueil Biometadys, Université de Nantes, Nantes, France. stephane.bezieau@chu-nantes.fr.</li>
</ul>
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Abstract
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<p>
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Background:
</strong>
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.
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Methods:
</strong>
Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected.
</p>
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Results:
</strong>
Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes.
</p>
<p>
<strong class="sub-title">
Conclusions:
</strong>
HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.
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<p> Fig. 1 </p>
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<div class="figure-caption-contents"><p> Facial and scalp skin lesions.… </p></div>
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<p> Fig. 1 </p>
</strong>
<div class="figure-caption-contents"><p> Facial and scalp skin lesions. Poikiloderma and alopecia of the scalp, eyebrows, and… </p></div>
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Fig. 1
</strong>
<div class="figure-caption-contents">Facial and scalp skin lesions. Poikiloderma and alopecia of the scalp, eyebrows, and eyelashes in individuals F1, F4, F5, F6, F8 and F9 (<b>a</b>-<b>f</b>)</div>
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
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<p> Fig. 2 </p>
</strong>
<div class="figure-caption-contents"><p> Skin lesions of upper and lower limbs. Eczema-like and psoriasis-like dermatosis of the… </p></div>
</div>
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Fig. 2
</strong>
<div class="figure-caption-contents">Skin lesions of upper and lower limbs. Eczema-like and psoriasis-like dermatosis of the upper limbs in individual F4 (<b>a</b>); hyperpigmentated regions in individual F5 (<b>b</b>); chronic lymphoedema of lower limbs and hands in individuals F4 (<b>c</b>, <b>d</b>), F6 (<b>e</b>), F8 (<b>f</b>); diffuse skin lesions of lower limbs and cellulitis in individual F6 (<b>e</b>, <b>g</b>)</div>
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aria-describedby="figure-caption-2"
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data-pmc-id="PMC4608180"
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id="article-image-2"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccbf/4608180/535db19aa8e9/13023_2015_352_Fig3_HTML.gif"
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
<div class="caption-wrap">
<strong class="figure-label">
<p> Fig. 3 </p>
</strong>
<div class="figure-caption-contents"><p> Muscle and skin microscopy. <b> a… </b> </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Fig. 3 </p>
</strong>
<div class="figure-caption-contents"><p> Muscle and skin microscopy. <b> a </b> - <b> d </b> Fatty tissue, fragmented muscle fascicles next… </p></div>
</div>
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Fig. 3
</strong>
<div class="figure-caption-contents">Muscle and skin microscopy. <b>a</b>-<b>d</b> Fatty tissue, fragmented muscle fascicles next to normal fascicles in individuals F1 (<b>a</b>-<b>b</b>) or nonspecific myopathic changes with variation in fiber size in proband F2 (<b>c</b>-<b>d</b>) (Hematoxylin and eosin staining [H&amp;E]; ×20 (<b>a</b>) and ×100 magnification (<b>b</b>-<b>d</b>)). <b>e</b>-<b>f</b> Epidermal atrophy, scleroderma-like features with a diffuse mild collagen sclerosis (<b>e</b>) (individual F1; H&amp;E; ×20 magnification); elastic dystrophy with formation of elastic globes (<i>arrowheads</i>) in the papillary dermis (<b>f</b>) (individual F1; Weigert staining; ×150 magnification)</div>
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data-slide-index="3"
data-label-slug="fig-4">
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
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<strong class="figure-label">
<p> Fig. 4 </p>
</strong>
<div class="figure-caption-contents"><p> Muscle MRI (coronal images: thighs… </p></div>
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</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Fig. 4 </p>
</strong>
<div class="figure-caption-contents"><p> Muscle MRI (coronal images: thighs ( <i> up </i> ); calves ( <i> down </i> ); T1-weighted… </p></div>
</div>
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Fig. 4
</strong>
<div class="figure-caption-contents">Muscle MRI (coronal images: thighs (<i>up</i>); calves (<i>down</i>); T1-weighted sequence). Diffuse bright appearance of the anterior compartment of the thighs, particularly in the vastus lateralis muscles, and the posterior compartment of the calves in individual F1 at 7 years of age (<b>a</b>); more severe stage with a relative sparing of the posterior compartment of the thighs in proband F2 at 30 years (<b>b</b>). Specific involvement of the vastus lateralis muscles (<i>asterisks</i>) with sparing of other thigh muscles in individual F9 (<b>c</b>)</div>
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itemprop="associatedMedia"
data-slide-index="4"
data-label-slug="fig-5">
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itemprop="contentUrl"
aria-describedby="figure-caption-4"
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<strong class="figure-label">
<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> Missense variants identified in <i> FAM111B… </i> </p></div>
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Fig. 5 </p>
</strong>
<div class="figure-caption-contents"><p> Missense variants identified in <i> FAM111B </i> . Conserved amino acid sequences among mammals and… </p></div>
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<strong class="figure-label">
Fig. 5
</strong>
<div class="figure-caption-contents">Missense variants identified in <i>FAM111B</i>. Conserved amino acid sequences among mammals and cluster within a putative cysteine/serine trypsin-like peptidase domain of FAM111B. Variant #1 [c.1289A&gt;C (p.Gln430Pro)] identified in individual F9; variant #2 [c.1861 T&gt;G (p.Tyr621Asp)] in the South-African family F10; variant #3 [c.1874C&gt;A (p.Thr625Asn)] in individual F8; variant #4 [c.1879A&gt;G (p.Arg627Gly)] in individuals F1, F3 and family F2; variant #5 [c.1883G&gt;A (p.Ser628Asn) in individuals F4, F5, F6 and F7</div>
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Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2. doi: 10.1186/1750-1172-5-2.
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Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol. 2004;140(8):93944. doi: 10.1001/archderm.140.8.939.
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Weary PE, Hsu YT, Richardson DR, Caravati CM, Wood BT. Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis. Arch Dermatol. 1969;100(4):41322. doi: 10.1001/archderm.1969.01610280031004.
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Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010;163(4):8669. doi: 10.1111/j.1365-2133.2010.09929.x.
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Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, et al. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Br J Dermatol. 2006;155(5):105761. doi: 10.1111/j.1365-2133.2006.07473.x.
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Tendons / pathology*
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</div>
<div id="substances" class="substances keywords-section">
<h2 class="title">
Substances
</h2>
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</div>
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
<h2 class="title">
Supplementary concepts
</h2>
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<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=26471370"
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Cited in Books
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MedGen
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MedGen (Bookshelf cited)
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=26471370"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=26471370&ordinalpos=1&linkpos=5">
SNP
</a></li></ul>
</div>
<div id="grants" class="grants">
<h2 class="title">
Grants and funding
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