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<title>
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Entry
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- #300244 - TERMINAL OSSEOUS DYSPLASIA; TOD
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- OMIM
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<span class="h4">#300244</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/300244"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(TERMINAL OSSEOUS DYSPLASIA) OR (FLNA)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11811&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9382" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300244[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88630" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/9a7e5fc5-f9c8-4146-a6a6-149deb47289b/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112149" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300244" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0112149" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 88630<br />
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<strong>DO:</strong> 0112149<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
|
300244
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
TERMINAL OSSEOUS DYSPLASIA; TOD
|
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</span>
|
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD<br />
|
|
ODPD<br />
|
|
OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; ODPF<br />
|
|
ODPF SYNDROME
|
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</span>
|
|
</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/857?start=-3&limit=10&highlight=857">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Terminal osseous dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300244"> 300244 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FLNA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300244" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300244" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300244" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Preauricular pits (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span><br /> -
|
|
Preauricular tags (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204245004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204245004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860816</a>, <a href="https://bioportal.bioontology.org/search?q=C0266609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266609</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Upslanting palpebral fissure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Telecanthus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246803005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246803005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Telecanthus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Epicanthic folds <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
|
|
Coloboma of iris <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flat nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859717</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000437</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000437</a>]</span><br /> -
|
|
Depressed nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859717</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000437</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000437</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dbff22230290c50b418c0323d62d778d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Tip,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dbff22230290c50b418c0323d62d778d" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft palate (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
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Thick lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br /> -
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Prominent lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br /> -
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Multiple frenula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860326</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Long bone anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538740</a>]</span><br /> -
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Articular abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538741</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
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Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Metacarpal disorganization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538742&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538742</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Metatarsal disorganization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538743</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Skin </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Pigmentary skin anomalies (on face and scalp) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538744</a>]</span><br /> -
|
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Digital fibromas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538745</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the filamin A gene (FLNA, <a href="/entry/300017#0029">300017.0029</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that terminal osseous dysplasia (TOD) is caused by mutation in the FLNA gene (<a href="/entry/300017">300017</a>) on chromosome Xq28.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (<a href="#10" class="mim-tip-reference" title="Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H. <strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong> Am. J. Hum. Genet. 87: 146-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598277">Sun et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a> identified a novel limb-malformation syndrome in a 4-generation family. The syndrome was characterized by abnormal and delayed ossification of bones in the hands and feet, leading to brachydactyly, camptodactyly, and clinodactyly, severe limb deformities, and joint contractures. In addition, affected individuals had pigmentary skin lesions on the face and scalp, dysmorphic features including hypertelorism, and multiple frenula. The phenotype was reminiscent of those described by <a href="#4" class="mim-tip-reference" title="Bloem, J. J., Vuzevski, V. D., Huffstadt, A. J. C. <strong>Recurring digital fibroma of infancy.</strong> J. Bone Joint Surg. Br. 56: 746-751, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4452723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4452723</a>] [<a href="https://doi.org/10.1302/0301-620X.56B4.746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4452723">Bloem et al. (1974)</a> and <a href="#8" class="mim-tip-reference" title="Horii, E., Sugiura, Y., Nakamura, R. <strong>A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization.</strong> Am. J. Med. Genet. 80: 1-5, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800904</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<1::aid-ajmg1>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9800904">Horii et al. (1998)</a> in sporadic cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739772+4452723+9800904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bacino, C. A., Stockton, D. W., Sierra, R. A., Heilstedt, H. A., Lewandowski, R., Van den Veyver, I. B. <strong>Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.</strong> Am. J. Med. Genet. 94: 102-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982966</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<102::aid-ajmg2>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982966">Bacino et al. (2000)</a> gave a full description of the family reported by <a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a>. The syndrome was present in 10 females in 4 generations. It was ascertained through a 4-month-old female with multiple anomalies including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, 'punched-out' pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. Affected females had a reduced male-to-female ratio of liveborn offspring, and some of them also had a history of multiple miscarriages. Some of the affected family members showed mesomelic bowing and/or shortening of arms and legs, suggesting that the skeletal dysplasia may not be limited to the hands and feet. The digital fibromata observed in the proband was reported to be present in most of the affected females but regressed with age. In some instances, affected females had vestigial and linear scar-like lesions on the fingertips. The lack of affected males, decreased number of male progeny in the pedigree, and the number of spontaneous abortions in the family supported a male-lethal X-linked dominant etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10982966+10739772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Breuning, M. H., Oranje, A. P., Langemeijer, R. A. T. M., Hovius, S. E. R., Diepstraten, A. F. M., den Hollander, J. C., Baumgartner, N., Dwek, J. R., Sommer, A., Toriello, H. <strong>Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.</strong> Am. J. Med. Genet. 94: 91-101, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982965</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982965">Breuning et al. (2000)</a> described 5 female patients with this condition, 2 of whom were related (a mother and her daughter). The mother, previously described by <a href="#4" class="mim-tip-reference" title="Bloem, J. J., Vuzevski, V. D., Huffstadt, A. J. C. <strong>Recurring digital fibroma of infancy.</strong> J. Bone Joint Surg. Br. 56: 746-751, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4452723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4452723</a>] [<a href="https://doi.org/10.1302/0301-620X.56B4.746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4452723">Bloem et al. (1974)</a>, had recurrent digital fibromas, ptosis of the right eyelid, and pigmentary anomalies of the forehead. Her daughter had focal dermal hypoplasia, coloboma of the iris and eyelids, anal stenosis, and extensive limb malformations; she developed digital fibromas at age 3 months. The 3 sporadic cases, one of whom was previously described by <a href="#4" class="mim-tip-reference" title="Bloem, J. J., Vuzevski, V. D., Huffstadt, A. J. C. <strong>Recurring digital fibroma of infancy.</strong> J. Bone Joint Surg. Br. 56: 746-751, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4452723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4452723</a>] [<a href="https://doi.org/10.1302/0301-620X.56B4.746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4452723">Bloem et al. (1974)</a>, had multiple digital fibromas, pigmented lesions in the temporal region, and limb malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10982965+4452723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Baroncini, A., Castelluccio, P., Morleo, M., Soli, F., Franco, B. <strong>Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.</strong> Am. J. Med. Genet. 143A: 51-57, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152064</a>] [<a href="https://doi.org/10.1002/ajmg.a.31557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17152064">Baroncini et al. (2007)</a> described a 2-year-old Italian girl with full expression of the syndrome, including skin defects, skeletal anomalies, and recurrent fibromatosis of fingers and toes. Her mother had only multiple hypertrophic oral frenula. X-chromosome inactivation studies revealed extremely skewed X inactivation (100%) with silencing of the maternal X chromosome in the daughter; the mother also had extremely skewed X inactivation (100%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17152064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kokitsu-Nakata, N. M., Antunes, L. F. B. B., Guion-Almeida, M. L. <strong>Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.</strong> Am. J. Med. Genet. 146A: 2698-2700, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18792982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18792982</a>] [<a href="https://doi.org/10.1002/ajmg.a.32353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18792982">Kokitsu-Nakata et al. (2008)</a> described a Brazilian girl with typical features of this disorder, including skin defects, skeletal anomalies, and recurrent fibromatosis of fingers and toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong> Am. J. Med. Genet. 152A: 1825-1831, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20583181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583181">Brunetti-Pierri et al. (2010)</a> restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by <a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a>, reviewing clinical and radiologic characteristics. The digital fibromata originally observed in the proband were not present at later evaluations, and she had particularly striking carpal and tarsal coalitions that were not noted in the earlier reports, because the carpal bones had not yet ossified. Although the skeletal manifestations of the disorder mostly involve hands and feet, <a href="#6" class="mim-tip-reference" title="Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong> Am. J. Med. Genet. 152A: 1825-1831, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20583181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583181">Brunetti-Pierri et al. (2010)</a> observed a more generalized bone involvement including bowing, mesomelic shortening, abnormal bony texture, areas of localized osteoporosis, cystic-like lesions, and amorphous ossification that suggested a possible defect of matrix degradation. They also noted that in this family, the degree of hand and foot involvement was more severe laterally compared to medially. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739772+20583181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Azakli, H., Akkaya, A. D., Aygun, M. S., Demirkesen, C., Eraslan, S., Kayserili, H. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.</strong> Am. J. Med. Genet. 179A: 123-129, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30561107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30561107</a>] [<a href="https://doi.org/10.1002/ajmg.a.60686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30561107">Azakli et al. (2019)</a> described a Turkish girl with full expression of the syndrome, including short stature, a short broad thorax, scoliosis, bowing of long bones, and metacarpal-tarsal disorganization. Additional findings included pigmentary abnormalities of the skin, digital fibromas, and multiple frenula. The patient had a right iris coloboma and left corectopia. Cardiac findings including pulmonary artery stenosis, atrial septal defect, and ventricular septal hypertrophy. Facial dysmorphisms included a depressed nasal bridge and hypertelorism. She had an alopecic area on the scalp, and skin biopsy of this area was consistent with a congenital smooth muscle hamartoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30561107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a methylation assay at the androgen receptor locus for evaluation of X inactivation, <a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a> found that all 7 affected females studied demonstrated preferential inactivation of their maternal X chromosomes carrying the mutation, whereas 2 unaffected females showed a random pattern. This finding indicated that the disorder is linked to the X chromosome. In linkage studies, a maximum lod score of 3.16 at a recombination fraction of zero was obtained for 5 markers mapping to Xq27.3-q28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong> Am. J. Med. Genet. 152A: 1825-1831, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20583181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583181">Brunetti-Pierri et al. (2010)</a> restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by <a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a>, obtaining a maximum multipoint lod score of 2.9 from marker <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1860929;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1860929</a> to qter; an identical haplotype was found only in affected individuals. The reduced genetic interval was refined to Xq28-qter, a region containing more than 100 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739772+20583181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 families segregating terminal osseous dysplasia, 2 of which were previously described by <a href="#5" class="mim-tip-reference" title="Breuning, M. H., Oranje, A. P., Langemeijer, R. A. T. M., Hovius, S. E. R., Diepstraten, A. F. M., den Hollander, J. C., Baumgartner, N., Dwek, J. R., Sommer, A., Toriello, H. <strong>Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.</strong> Am. J. Med. Genet. 94: 91-101, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982965</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982965">Breuning et al. (2000)</a> and <a href="#3" class="mim-tip-reference" title="Baroncini, A., Castelluccio, P., Morleo, M., Soli, F., Franco, B. <strong>Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.</strong> Am. J. Med. Genet. 143A: 51-57, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152064</a>] [<a href="https://doi.org/10.1002/ajmg.a.31557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17152064">Baroncini et al. (2007)</a>, and in 3 sporadic case individuals, who were previously described by <a href="#8" class="mim-tip-reference" title="Horii, E., Sugiura, Y., Nakamura, R. <strong>A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization.</strong> Am. J. Med. Genet. 80: 1-5, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800904</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<1::aid-ajmg1>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9800904">Horii et al. (1998)</a>, <a href="#7" class="mim-tip-reference" title="Drut, R., Pedemonte, L., Rositto, A. <strong>Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.</strong> Int. J. Surg. Path. 13: 181-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864382</a>] [<a href="https://doi.org/10.1177/106689690501300209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864382">Drut et al. (2005)</a>, and <a href="#5" class="mim-tip-reference" title="Breuning, M. H., Oranje, A. P., Langemeijer, R. A. T. M., Hovius, S. E. R., Diepstraten, A. F. M., den Hollander, J. C., Baumgartner, N., Dwek, J. R., Sommer, A., Toriello, H. <strong>Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.</strong> Am. J. Med. Genet. 94: 91-101, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982965</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982965">Breuning et al. (2000)</a>, <a href="#10" class="mim-tip-reference" title="Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H. <strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong> Am. J. Hum. Genet. 87: 146-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598277">Sun et al. (2010)</a> identified a causative mutation in the FLNA gene: a c.5217G-A transition activated a cryptic splice site, removing the last 48 nucleotides from exon 31 and resulting in a loss of 16 amino acids (<a href="/entry/300017#0029">300017.0029</a>). In the families, the variant segregated with the disease. <a href="#10" class="mim-tip-reference" title="Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H. <strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong> Am. J. Hum. Genet. 87: 146-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598277">Sun et al. (2010)</a> showed that because of nonrandom X chromosome inactivation, the mutant allele was not expressed in the patient fibroblasts. RNA expression of the mutant allele was detected only in cultured fibroma cells obtained from 15-year-old surgically removed material. The mutation was not found in 400 control X chromosomes, pilot data from 1000 Genomes Project, or the FLNA gene variant database. Because the mutation was predicted to remove a sequence at the surface of filamin repeat 15, <a href="#10" class="mim-tip-reference" title="Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H. <strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong> Am. J. Hum. Genet. 87: 146-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20598277">Sun et al. (2010)</a> suggested that the missing region in the filamin A protein affects or prevents the interaction of filamin A with other proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17152064+9800904+10982965+15864382+20598277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish girl with terminal osseous dysplasia and pigmentary defects, <a href="#1" class="mim-tip-reference" title="Azakli, H., Akkaya, A. D., Aygun, M. S., Demirkesen, C., Eraslan, S., Kayserili, H. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.</strong> Am. J. Med. Genet. 179A: 123-129, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30561107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30561107</a>] [<a href="https://doi.org/10.1002/ajmg.a.60686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30561107">Azakli et al. (2019)</a> identified heterozygosity for the recurrent c.5217G-A mutation in the FLNA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30561107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a family with terminal osseous dysplasia and pigmentary defects mapping to Xq28-qter, originally reported by <a href="#11" class="mim-tip-reference" title="Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y. <strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong> Am. J. Hum. Genet. 66: 1461-1464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739772">Zhang et al. (2000)</a>, <a href="#6" class="mim-tip-reference" title="Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A. <strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong> Am. J. Med. Genet. 152A: 1825-1831, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20583181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583181">Brunetti-Pierri et al. (2010)</a> sequenced the intron-exon junctions and exons of the candidate FAM58A (<a href="/entry/300708">300708</a>) and FLNA genes but did not find any mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739772+20583181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Azakli, H., Akkaya, A. D., Aygun, M. S., Demirkesen, C., Eraslan, S., Kayserili, H.
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<strong>Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.</strong>
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Am. J. Med. Genet. 179A: 123-129, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30561107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30561107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30561107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.60686" target="_blank">Full Text</a>]
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Bacino, C. A., Stockton, D. W., Sierra, R. A., Heilstedt, H. A., Lewandowski, R., Van den Veyver, I. B.
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<strong>Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.</strong>
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Am. J. Med. Genet. 94: 102-112, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.</strong>
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Am. J. Med. Genet. 143A: 51-57, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17152064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bloem, J. J., Vuzevski, V. D., Huffstadt, A. J. C.
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<strong>Recurring digital fibroma of infancy.</strong>
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J. Bone Joint Surg. Br. 56: 746-751, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4452723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4452723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4452723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1302/0301-620X.56B4.746" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Breuning2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Breuning, M. H., Oranje, A. P., Langemeijer, R. A. T. M., Hovius, S. E. R., Diepstraten, A. F. M., den Hollander, J. C., Baumgartner, N., Dwek, J. R., Sommer, A., Toriello, H.
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<strong>Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.</strong>
|
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Am. J. Med. Genet. 94: 91-101, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Brunetti-Pierri2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A.
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<strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong>
|
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Am. J. Med. Genet. 152A: 1825-1831, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20583181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33470" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Drut2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Drut, R., Pedemonte, L., Rositto, A.
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<strong>Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.</strong>
|
|
Int. J. Surg. Path. 13: 181-184, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/106689690501300209" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Horii1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horii, E., Sugiura, Y., Nakamura, R.
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<strong>A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization.</strong>
|
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Am. J. Med. Genet. 80: 1-5, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9800904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<1::aid-ajmg1>3.0.co;2-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kokitsu-Nakata2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kokitsu-Nakata, N. M., Antunes, L. F. B. B., Guion-Almeida, M. L.
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<strong>Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.</strong>
|
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Am. J. Med. Genet. 146A: 2698-2700, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18792982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18792982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32353" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Sun2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H.
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<strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong>
|
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Am. J. Hum. Genet. 87: 146-153, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20598277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20598277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20598277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20598277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.06.008" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Zhang2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y.
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<strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong>
|
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Am. J. Hum. Genet. 66: 1461-1464, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302868" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/01/2020
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/11/2010<br>Nara Sobreira - updated : 10/22/2010<br>Nara Sobreira - updated : 7/31/2009<br>Marla J. F. O'Neill - updated : 6/22/2007<br>Sonja A. Rasmussen - updated : 9/22/2000<br>Sonja A. Rasmussen - updated : 9/22/2000<br>Victor A. McKusick - updated : 6/13/2000
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/1/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/01/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/04/2018<br>alopez : 09/19/2016<br>terry : 01/13/2011<br>wwang : 11/11/2010<br>terry : 11/11/2010<br>carol : 10/27/2010<br>terry : 10/22/2010<br>carol : 7/31/2009<br>wwang : 6/26/2007<br>terry : 6/22/2007<br>mgross : 3/17/2004<br>cwells : 1/5/2001<br>cwells : 1/4/2001<br>mcapotos : 9/25/2000<br>mcapotos : 9/25/2000<br>mcapotos : 9/22/2000<br>mcapotos : 9/22/2000<br>carol : 6/15/2000<br>terry : 6/13/2000<br>terry : 6/13/2000<br>carol : 5/1/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 300244
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TERMINAL OSSEOUS DYSPLASIA; TOD
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD<br />
|
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ODPD<br />
|
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OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; ODPF<br />
|
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ODPF SYNDROME
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 88630;
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<strong>DO:</strong> 0112149;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
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Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
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<span class="mim-font">
|
|
Xq28
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Terminal osseous dysplasia
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</span>
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</td>
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<td>
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<span class="mim-font">
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300244
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
X-linked dominant
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
FLNA
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
300017
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that terminal osseous dysplasia (TOD) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010). </p>
|
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</span>
|
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<div>
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<strong>Clinical Features</strong>
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<p>Zhang et al. (2000) identified a novel limb-malformation syndrome in a 4-generation family. The syndrome was characterized by abnormal and delayed ossification of bones in the hands and feet, leading to brachydactyly, camptodactyly, and clinodactyly, severe limb deformities, and joint contractures. In addition, affected individuals had pigmentary skin lesions on the face and scalp, dysmorphic features including hypertelorism, and multiple frenula. The phenotype was reminiscent of those described by Bloem et al. (1974) and Horii et al. (1998) in sporadic cases. </p><p>Bacino et al. (2000) gave a full description of the family reported by Zhang et al. (2000). The syndrome was present in 10 females in 4 generations. It was ascertained through a 4-month-old female with multiple anomalies including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, 'punched-out' pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. Affected females had a reduced male-to-female ratio of liveborn offspring, and some of them also had a history of multiple miscarriages. Some of the affected family members showed mesomelic bowing and/or shortening of arms and legs, suggesting that the skeletal dysplasia may not be limited to the hands and feet. The digital fibromata observed in the proband was reported to be present in most of the affected females but regressed with age. In some instances, affected females had vestigial and linear scar-like lesions on the fingertips. The lack of affected males, decreased number of male progeny in the pedigree, and the number of spontaneous abortions in the family supported a male-lethal X-linked dominant etiology. </p><p>Breuning et al. (2000) described 5 female patients with this condition, 2 of whom were related (a mother and her daughter). The mother, previously described by Bloem et al. (1974), had recurrent digital fibromas, ptosis of the right eyelid, and pigmentary anomalies of the forehead. Her daughter had focal dermal hypoplasia, coloboma of the iris and eyelids, anal stenosis, and extensive limb malformations; she developed digital fibromas at age 3 months. The 3 sporadic cases, one of whom was previously described by Bloem et al. (1974), had multiple digital fibromas, pigmented lesions in the temporal region, and limb malformations. </p><p>Baroncini et al. (2007) described a 2-year-old Italian girl with full expression of the syndrome, including skin defects, skeletal anomalies, and recurrent fibromatosis of fingers and toes. Her mother had only multiple hypertrophic oral frenula. X-chromosome inactivation studies revealed extremely skewed X inactivation (100%) with silencing of the maternal X chromosome in the daughter; the mother also had extremely skewed X inactivation (100%). </p><p>Kokitsu-Nakata et al. (2008) described a Brazilian girl with typical features of this disorder, including skin defects, skeletal anomalies, and recurrent fibromatosis of fingers and toes. </p><p>Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), reviewing clinical and radiologic characteristics. The digital fibromata originally observed in the proband were not present at later evaluations, and she had particularly striking carpal and tarsal coalitions that were not noted in the earlier reports, because the carpal bones had not yet ossified. Although the skeletal manifestations of the disorder mostly involve hands and feet, Brunetti-Pierri et al. (2010) observed a more generalized bone involvement including bowing, mesomelic shortening, abnormal bony texture, areas of localized osteoporosis, cystic-like lesions, and amorphous ossification that suggested a possible defect of matrix degradation. They also noted that in this family, the degree of hand and foot involvement was more severe laterally compared to medially. </p><p>Azakli et al. (2019) described a Turkish girl with full expression of the syndrome, including short stature, a short broad thorax, scoliosis, bowing of long bones, and metacarpal-tarsal disorganization. Additional findings included pigmentary abnormalities of the skin, digital fibromas, and multiple frenula. The patient had a right iris coloboma and left corectopia. Cardiac findings including pulmonary artery stenosis, atrial septal defect, and ventricular septal hypertrophy. Facial dysmorphisms included a depressed nasal bridge and hypertelorism. She had an alopecic area on the scalp, and skin biopsy of this area was consistent with a congenital smooth muscle hamartoma. </p>
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<strong>Mapping</strong>
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<p>Using a methylation assay at the androgen receptor locus for evaluation of X inactivation, Zhang et al. (2000) found that all 7 affected females studied demonstrated preferential inactivation of their maternal X chromosomes carrying the mutation, whereas 2 unaffected females showed a random pattern. This finding indicated that the disorder is linked to the X chromosome. In linkage studies, a maximum lod score of 3.16 at a recombination fraction of zero was obtained for 5 markers mapping to Xq27.3-q28. </p><p>Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), obtaining a maximum multipoint lod score of 2.9 from marker rs1860929 to qter; an identical haplotype was found only in affected individuals. The reduced genetic interval was refined to Xq28-qter, a region containing more than 100 genes. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 3 families segregating terminal osseous dysplasia, 2 of which were previously described by Breuning et al. (2000) and Baroncini et al. (2007), and in 3 sporadic case individuals, who were previously described by Horii et al. (1998), Drut et al. (2005), and Breuning et al. (2000), Sun et al. (2010) identified a causative mutation in the FLNA gene: a c.5217G-A transition activated a cryptic splice site, removing the last 48 nucleotides from exon 31 and resulting in a loss of 16 amino acids (300017.0029). In the families, the variant segregated with the disease. Sun et al. (2010) showed that because of nonrandom X chromosome inactivation, the mutant allele was not expressed in the patient fibroblasts. RNA expression of the mutant allele was detected only in cultured fibroma cells obtained from 15-year-old surgically removed material. The mutation was not found in 400 control X chromosomes, pilot data from 1000 Genomes Project, or the FLNA gene variant database. Because the mutation was predicted to remove a sequence at the surface of filamin repeat 15, Sun et al. (2010) suggested that the missing region in the filamin A protein affects or prevents the interaction of filamin A with other proteins. </p><p>In a Turkish girl with terminal osseous dysplasia and pigmentary defects, Azakli et al. (2019) identified heterozygosity for the recurrent c.5217G-A mutation in the FLNA gene. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a family with terminal osseous dysplasia and pigmentary defects mapping to Xq28-qter, originally reported by Zhang et al. (2000), Brunetti-Pierri et al. (2010) sequenced the intron-exon junctions and exons of the candidate FAM58A (300708) and FLNA genes but did not find any mutations. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Azakli, H., Akkaya, A. D., Aygun, M. S., Demirkesen, C., Eraslan, S., Kayserili, H.
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<strong>Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.</strong>
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Am. J. Med. Genet. 179A: 123-129, 2019.
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[PubMed: 30561107]
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[Full Text: https://doi.org/10.1002/ajmg.a.60686]
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Bacino, C. A., Stockton, D. W., Sierra, R. A., Heilstedt, H. A., Lewandowski, R., Van den Veyver, I. B.
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<strong>Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.</strong>
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Am. J. Med. Genet. 94: 102-112, 2000.
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[PubMed: 10982966]
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[Full Text: https://doi.org/10.1002/1096-8628(20000911)94:2<102::aid-ajmg2>3.0.co;2-x]
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Baroncini, A., Castelluccio, P., Morleo, M., Soli, F., Franco, B.
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<strong>Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.</strong>
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Am. J. Med. Genet. 143A: 51-57, 2007.
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[PubMed: 17152064]
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[Full Text: https://doi.org/10.1002/ajmg.a.31557]
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Bloem, J. J., Vuzevski, V. D., Huffstadt, A. J. C.
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<strong>Recurring digital fibroma of infancy.</strong>
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J. Bone Joint Surg. Br. 56: 746-751, 1974.
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[PubMed: 4452723]
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[Full Text: https://doi.org/10.1302/0301-620X.56B4.746]
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Breuning, M. H., Oranje, A. P., Langemeijer, R. A. T. M., Hovius, S. E. R., Diepstraten, A. F. M., den Hollander, J. C., Baumgartner, N., Dwek, J. R., Sommer, A., Toriello, H.
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<strong>Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.</strong>
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Am. J. Med. Genet. 94: 91-101, 2000.
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[PubMed: 10982965]
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[Full Text: https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d]
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Brunetti-Pierri, N., Lachman, R., Lee, K., Leal, S. M., Piccolo, P., Van den Veyver, I. B., Bacino, C. A.
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<strong>Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.</strong>
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Am. J. Med. Genet. 152A: 1825-1831, 2010.
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[PubMed: 20583181]
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[Full Text: https://doi.org/10.1002/ajmg.a.33470]
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Drut, R., Pedemonte, L., Rositto, A.
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<strong>Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.</strong>
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Int. J. Surg. Path. 13: 181-184, 2005.
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[PubMed: 15864382]
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[Full Text: https://doi.org/10.1177/106689690501300209]
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Horii, E., Sugiura, Y., Nakamura, R.
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<strong>A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization.</strong>
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Am. J. Med. Genet. 80: 1-5, 1998.
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[PubMed: 9800904]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<1::aid-ajmg1>3.0.co;2-8]
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Kokitsu-Nakata, N. M., Antunes, L. F. B. B., Guion-Almeida, M. L.
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<strong>Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.</strong>
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Am. J. Med. Genet. 146A: 2698-2700, 2008.
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[PubMed: 18792982]
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[Full Text: https://doi.org/10.1002/ajmg.a.32353]
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Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., den Dunnen, J. T., Breuning, M. H.
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<strong>Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.</strong>
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Am. J. Hum. Genet. 87: 146-153, 2010.
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[PubMed: 20598277]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.06.008]
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Zhang, W., Amir, R., Stockton, D. W., Van den Veyver, I. B., Bacino, C. A., Zoghbi, H. Y.
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<strong>Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter.</strong>
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Am. J. Hum. Genet. 66: 1461-1464, 2000.
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[PubMed: 10739772]
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[Full Text: https://doi.org/10.1086/302868]
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Hilary J. Vernon - updated : 07/01/2020<br>Marla J. F. O'Neill - updated : 11/11/2010<br>Nara Sobreira - updated : 10/22/2010<br>Nara Sobreira - updated : 7/31/2009<br>Marla J. F. O'Neill - updated : 6/22/2007<br>Sonja A. Rasmussen - updated : 9/22/2000<br>Sonja A. Rasmussen - updated : 9/22/2000<br>Victor A. McKusick - updated : 6/13/2000
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Victor A. McKusick : 5/1/2000
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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