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Entry
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- #603543 - LIMB-MAMMARY SYNDROME; LMS
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- OMIM
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<p>
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<span class="h4">#603543</span>
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<br />
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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/603543"><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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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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 style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=LIMB-MAMMARY SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=10919&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.ncbi.nlm.nih.gov/books/NBK43797/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4243" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603543[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=69085" 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/bf89661f-e8c1-48ad-b61f-323bf4ca77be/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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<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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</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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<div>
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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>SNOMEDCT:</strong> 721972001<br />
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<strong>ORPHA:</strong> 69085<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>
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603543
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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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LIMB-MAMMARY SYNDROME; LMS
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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="phenotypeMap" class="mim-anchor"></a>
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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 table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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>
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Inheritance
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</th>
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<th>
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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>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/957?start=-3&limit=10&highlight=957">
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3q28
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</a>
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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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Limb-mammary syndrome
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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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<a href="/entry/603543"> 603543 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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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TP63
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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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<a href="/entry/603273"> 603273 </a>
|
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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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<div class="btn-group ">
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<a href="/clinicalSynopsis/603543" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/603543" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/603543" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </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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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
<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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lacrimal duct atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278530008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278530008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344511</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000564</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000564</a>]</span><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 <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 /> -
|
|
Bifid uvula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18910001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18910001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" 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> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Aplastic/hypoplastic breasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863754</a>]</span><br /> -
|
|
Aplastic/hypoplastic nipples <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863755</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Anteriorly placed anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Primary amenorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/156035004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">156035004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8913004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8913004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N91.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N91.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232939</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000786</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000786</a>]</span><br /> -
|
|
Ovarian agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003512001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003512001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12017008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12017008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q50.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266368</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010463</a>]</span><br /> -
|
|
Uterine hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
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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Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" 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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</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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- Hallux valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122480009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122480009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65358001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65358001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53842005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53842005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/735.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">735.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265656</a>, <a href="https://bioportal.bioontology.org/search?q=C0018536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018536</a>, <a href="https://bioportal.bioontology.org/search?q=C0158458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span><br /> -
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Split foot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205358006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205358006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q72.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q72.7</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q72.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q72.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432028&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432028</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001839</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" 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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Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" 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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</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 style="margin-left: 2em;">
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<span class="mim-font">
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- Hypohidrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45004005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45004005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L74.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L74.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</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> Nails </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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- Nail dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279947</a>, <a href="https://bioportal.bioontology.org/search?q=C1834405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </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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- Inter- and intrafamilial phenotypic variability<br />
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</span>
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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 mutations in the tumor protein 63 gene (TP63, <a href="/entry/603273#0012">603273.0012</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<br />
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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-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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<p>A number sign (#) is used with this entry because of evidence that limb-mammary syndrome is caused by heterozygous mutation in the TP63 gene (<a href="/entry/603273">603273</a>) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC syndrome-3 (EEC3; <a href="/entry/604292">604292</a>), AEC syndrome (<a href="/entry/106260">106260</a>), ADULT syndrome (<a href="/entry/103285">103285</a>), Rapp-Hodgkin syndrome (RHS; <a href="/entry/129400">129400</a>), and split-hand/foot malformation-4 (SHFM4; <a href="/entry/605289">605289</a>).</p>
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<p>Limb-mammary syndrome (LMS) is an autosomal dominant disorder characterized by variable expressivity of severe hand and/or foot anomalies (deficiencies, duplications, and fusion/separation defects) and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal duct atresia, nail dysplasia hypohidrosis, hypodontia, and cleft palate with or without bifid uvula (<a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">Van Bokhoven et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">Van Bokhoven et al. (1999)</a> described a 'new' syndrome, which they designated limb-mammary syndrome, in a large 9-generation Dutch family, in which <a href="#6" class="mim-tip-reference" title="van Bokhoven, H., Brunner, H. G. <strong>Splitting p63.</strong> Am. J. Hum. Genet. 71: 1-13, 2002. Note: Erratum: Am. J. Hum. Genet. 72: 779 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12037717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12037717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12037717[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/10.1086/341450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12037717">van Bokhoven and Brunner (2002)</a> reported mutation in the TP63 gene. Consistent features were severe hand/foot anomalies and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings included lacrimal-duct atresia, nail dysplasia, hypohidrosis, hypodontia, and cleft palate with or without bifid uvula. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12037717+9973291" 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="#7" class="mim-tip-reference" title="van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H., Vanmolkot, K. R., van Beusekom, E., van Beersum, S. E., Celli, J., Merkx, G. F., Tenconi, R., and 13 others. <strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 481-492, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[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/10.1086/323123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11462173">Van Bokhoven et al. (2001)</a> reported 2 unrelated patients (BX and DW) with LMS and mutation in the TP63 gene. Patient BX had bilateral split-hand/foot malformations (SHFM), isolated cleft palate, and normal hair, skin, and teeth, but absent nipples. Patient DW had bilateral SHFM, absence of the lacrimal punctae, bilateral ear pits, submucous cleft palate, and absent nipples, as well as anteriorly placed anus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11462173" 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="Guazzarotti, L., Caprio, C., Rinne, T. K., Bosoni, M., Pattarino, G., Mauri, S., Tadini, G. L., van Bokhoven, H., Zuccotti, G. V. <strong>Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?</strong> Am. J. Med. Genet. 146A: 2001-2004, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627043</a>] [<a href="https://doi.org/10.1002/ajmg.a.32371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18627043">Guazzarotti et al. (2008)</a> described a 14-year-old girl with LMS, previously reported by <a href="#7" class="mim-tip-reference" title="van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H., Vanmolkot, K. R., van Beusekom, E., van Beersum, S. E., Celli, J., Merkx, G. F., Tenconi, R., and 13 others. <strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 481-492, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[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/10.1086/323123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11462173">van Bokhoven et al. (2001)</a> as patient BX, who presented with primary amenorrhea and was found to have absence of the uterus and ovaries on abdominal MRI. She had normal development of external genitalia and pubic hair, and normal morphology of the lower vaginal tract; hormonal evaluation revealed hypergonadotropic hypogonadism with a very low plasma estrogen level. <a href="#2" class="mim-tip-reference" title="Guazzarotti, L., Caprio, C., Rinne, T. K., Bosoni, M., Pattarino, G., Mauri, S., Tadini, G. L., van Bokhoven, H., Zuccotti, G. V. <strong>Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?</strong> Am. J. Med. Genet. 146A: 2001-2004, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627043</a>] [<a href="https://doi.org/10.1002/ajmg.a.32371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18627043">Guazzarotti et al. (2008)</a> stated that this was the first report of female gonadal dysgenesis in the group of EEC and related conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11462173+18627043" 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>Clinical Variability</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Mathorne, S. W., Ravn, P., Hansen, D., Beck-Nielsen, S. S., Gjorup, H., Sorensen, K. P., Fagerberg, C. R. <strong>Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</strong> Clin. Genet. 97: 779-784, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32067224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32067224</a>] [<a href="https://doi.org/10.1111/cge.13725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32067224">Mathorne et al. (2020)</a> reported 6 affected individuals over 2 generations of a Danish family who had features consistent with LMS but without limb anomalies, and mutation in the TP63 gene. The affected individuals were 4 sibs, their father, and their paternal uncle. All 6 affected family members had nipple abnormalities, including supernumerary, split, small, bean-shaped, and widely spaced nipples. Lacrimal duct atresia was present in 4 of the 6 patients, and dental anomalies, including tooth agenesis, severe decay, and moderate to severe attrition, were observed in 3 patients. The 2 affected sisters had mammary gland and nipple hypoplasia, ovarian agenesis, and uterine hypoplasia. No ovaries were detected by MRI. With estrogen treatment, the uterine size increased to normal or near-normal and the sisters had menstrual periods; thus, the authors considered the uterine hypoplasia to be secondary to ovarian insufficiency. The father had hypoplastic toenails, 1 brother was born with cleft palate, and the paternal uncle also had anteriorly placed anus. None of the affected individuals exhibited split hand/foot or syndactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32067224" 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>The transmission pattern of LMS in the family reported by <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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>By genomewide screening with polymorphic markers in a large Dutch family with LMS, <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a> localized the genetic defect to the subtelomeric region of chromosome 3q. The maximum lod score obtained was 12.014 at a recombination fraction of 0 for marker D3S3530. Haplotype analysis reduced the critical region to a 3-cM interval on chromosome 3q27 between D3S1580 and D3S1314. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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>To investigate the possibility that EEC syndrome is allelic to LMS, <a href="#1" class="mim-tip-reference" title="Celli, J., Duijf, P., Hamel, B. C. J., Bamshad, M., Kramer, B., Smits, A. P. T., Newbury-Ecob, R., Hennekam, R. C. M., Van Buggenhout, G., van Haeringen, A., Woods, C. G., van Essen, A. J., de Waal, R., Vriend, G., Haber, D. A., Yang, A., McKeon, F., Brunner, H. G., van Bokhoven, H. <strong>Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.</strong> Cell 99: 143-153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535733</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81646-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10535733">Celli et al. (1999)</a> used polymorphic markers from the 3q27 region for a linkage analysis in 5 families with EEC syndrome. Positive lod scores were obtained with markers from within the LMS interval for each of these families. The added Zmax across these families was 8.03 at marker D3S3530 at a recombination fraction theta = 0. Recombination events were observed between markers that define the LMS interval, D3S1580 and D3S1314, and the disease locus, indicating that these 5 EEC syndrome families map to the same 3-cM region of 3q27 that had been found for the LMS family reported by <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a>. This colocalization and the overlapping clinical features of these disorders strongly suggested that the same gene is involved in this form of EEC syndrome (EEC3; <a href="/entry/604292">604292</a>) and LMS. The critical region for EEC3/LMS was reduced to a 2.3-cM interval by a recombination event between marker D3S3530 and the genetic defect in EEC3 family Bri-1 (64:1 odds). Analysis of the p63 gene (TP63; <a href="/entry/603273">603273</a>), a homolog of p53 located in the critical LMS/EEC3 interval, revealed heterozygous mutations in 9 unrelated EEC3 families. No mutations were identified in the LMS family and several other EEC3 families mapping to chromosome 3q27. <a href="#1" class="mim-tip-reference" title="Celli, J., Duijf, P., Hamel, B. C. J., Bamshad, M., Kramer, B., Smits, A. P. T., Newbury-Ecob, R., Hennekam, R. C. M., Van Buggenhout, G., van Haeringen, A., Woods, C. G., van Essen, A. J., de Waal, R., Vriend, G., Haber, D. A., Yang, A., McKeon, F., Brunner, H. G., van Bokhoven, H. <strong>Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.</strong> Cell 99: 143-153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535733</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81646-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10535733">Celli et al. (1999)</a> suggested that these mutations most likely reside in other parts of the TP63 gene not yet analyzed, including exons 1 to 4 and 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10535733+9973291" 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>Because of the phenotypic similarity between a family with the ADULT syndrome (<a href="/entry/103285">103285</a>) described by <a href="#5" class="mim-tip-reference" title="Propping, P., Zerres, K. <strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong> Am. J. Med. Genet. 45: 642-648, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456838</a>] [<a href="https://doi.org/10.1002/ajmg.1320450525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456838">Propping and Zerres (1993)</a> and a family with LMS syndrome mapping to chromosome 3q27, <a href="#4" class="mim-tip-reference" title="Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K. <strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong> Am. J. Med. Genet. 90: 179-182, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607963</a>]" pmid="10607963">Propping et al. (2000)</a> genotyped 21 members of the family with ADULT syndrome with 19 polymorphic markers from the 3q27 chromosome region. Their studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8456838+10607963" 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 large Dutch family with LMS, <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a> noted phenotypic overlap with the ulnar mammary syndrome (UMS; 181450), which is caused by mutation in the TBX3 gene (<a href="/entry/601621">601621</a>) on 12q24.1, as well as with the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC), 1 form of which maps to chromosome 7q (EEC1; <a href="/entry/129900">129900</a>). However, allelism with UMS and EEC1 was excluded by linkage studies with markers from the relevant chromosomal regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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="#7" class="mim-tip-reference" title="van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H., Vanmolkot, K. R., van Beusekom, E., van Beersum, S. E., Celli, J., Merkx, G. F., Tenconi, R., and 13 others. <strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 481-492, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[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/10.1086/323123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11462173">Van Bokhoven et al. (2001)</a> sequenced the TP63 gene in 2 unrelated patients with LMS (patients BX and DW) as well as in the large Dutch family originally reported by <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a>. Patient BX was heterozygous for a 2-bp deletion in exon 13 of the TP63 gene (<a href="/entry/603273#0012">603273.0012</a>), whereas patient DW was heterozygous for a 2-bp deletion in exon 14 (<a href="/entry/603273#0013">603273.0013</a>). No mutation in the TP63 gene was identified in the original Dutch family with LMS mapping to 3q27; the authors suggested that their mutation was likely to reside outside the P63 coding region, in an intron or regulatory region of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11462173+9973291" 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="van Bokhoven, H., Brunner, H. G. <strong>Splitting p63.</strong> Am. J. Hum. Genet. 71: 1-13, 2002. Note: Erratum: Am. J. Hum. Genet. 72: 779 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12037717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12037717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12037717[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/10.1086/341450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12037717">Van Bokhoven and Brunner (2002)</a> stated that a G76W substitution in exon 4 of the TP63 gene, just upstream of the TA domain, had been found in the large 9-generation Dutch family with LMS that was originally described by <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12037717+9973291" 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 affected members of a Danish family with features of LMS but without limb anomalies, <a href="#3" class="mim-tip-reference" title="Mathorne, S. W., Ravn, P., Hansen, D., Beck-Nielsen, S. S., Gjorup, H., Sorensen, K. P., Fagerberg, C. R. <strong>Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</strong> Clin. Genet. 97: 779-784, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32067224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32067224</a>] [<a href="https://doi.org/10.1111/cge.13725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32067224">Mathorne et al. (2020)</a> identified heterozygosity for a nonsense mutation in the TP63 gene (R643X; <a href="/entry/603273#0035">603273.0035</a>). The mutation segregated with disease in the family and was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32067224" 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 large Dutch family with LMS mapping to chromosome 3q27, <a href="#8" class="mim-tip-reference" title="van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J. <strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong> Am. J. Hum. Genet. 64: 538-546, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>] [<a href="https://doi.org/10.1086/302246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973291">van Bokhoven et al. (1999)</a> considered the SOX2 gene to be an excellent candidate gene because the gene product stimulates expression of fibroblast growth factor-4 (FGF4; <a href="/entry/164980">164980</a>), an important signaling molecule during limb outgrowth and development. However, Southern blot analysis excluded a large deletion as the cause of the disorder, and screening the gene by SSCP analysis and sequencing both DNA strands did not reveal any mutations in the SOX2 open reading frame. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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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Celli, J., Duijf, P., Hamel, B. C. J., Bamshad, M., Kramer, B., Smits, A. P. T., Newbury-Ecob, R., Hennekam, R. C. M., Van Buggenhout, G., van Haeringen, A., Woods, C. G., van Essen, A. J., de Waal, R., Vriend, G., Haber, D. A., Yang, A., McKeon, F., Brunner, H. G., van Bokhoven, H.
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<strong>Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.</strong>
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Cell 99: 143-153, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10535733" 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/s0092-8674(00)81646-3" target="_blank">Full Text</a>]
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Guazzarotti, L., Caprio, C., Rinne, T. K., Bosoni, M., Pattarino, G., Mauri, S., Tadini, G. L., van Bokhoven, H., Zuccotti, G. V.
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<strong>Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?</strong>
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Am. J. Med. Genet. 146A: 2001-2004, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627043" 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.32371" target="_blank">Full Text</a>]
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Mathorne, S. W., Ravn, P., Hansen, D., Beck-Nielsen, S. S., Gjorup, H., Sorensen, K. P., Fagerberg, C. R.
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<strong>Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</strong>
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Clin. Genet. 97: 779-784, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32067224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32067224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32067224" 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/10.1111/cge.13725" target="_blank">Full Text</a>]
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Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K.
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<strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong>
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Am. J. Med. Genet. 90: 179-182, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10607963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Propping, P., Zerres, K.
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<strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong>
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Am. J. Med. Genet. 45: 642-648, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456838" 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.1320450525" target="_blank">Full Text</a>]
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van Bokhoven, H., Brunner, H. G.
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<strong>Splitting p63.</strong>
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Am. J. Hum. Genet. 71: 1-13, 2002. Note: Erratum: Am. J. Hum. Genet. 72: 779 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12037717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12037717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12037717[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=12037717" 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/10.1086/341450" target="_blank">Full Text</a>]
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van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H., Vanmolkot, K. R., van Beusekom, E., van Beersum, S. E., Celli, J., Merkx, G. F., Tenconi, R., and 13 others.
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<strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 69: 481-492, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[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=11462173" 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/10.1086/323123" target="_blank">Full Text</a>]
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van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J.
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<strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong>
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Am. J. Hum. Genet. 64: 538-546, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973291" 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/10.1086/302246" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 04/04/2023
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Anne M. Stumpf - updated : 03/17/2020<br>Marla J. F. O'Neill - updated : 6/1/2009<br>Sonja A. Rasmussen - updated : 10/11/2000<br>Stylianos E. Antonarakis - updated : 11/11/1999
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Victor A. McKusick : 2/17/1999
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carol : 10/16/2024
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alopez : 04/04/2023<br>carol : 03/18/2020<br>alopez : 03/17/2020<br>alopez : 03/17/2020<br>carol : 06/23/2016<br>wwang : 7/15/2011<br>wwang : 6/15/2009<br>terry : 6/1/2009<br>terry : 2/12/2009<br>alopez : 8/20/2002<br>carol : 11/2/2000<br>carol : 10/11/2000<br>carol : 10/11/2000<br>carol : 10/11/2000<br>mcapotos : 10/11/2000<br>mgross : 11/11/1999<br>carol : 2/19/1999<br>carol : 2/17/1999
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<strong>#</strong> 603543
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LIMB-MAMMARY SYNDROME; LMS
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<strong>SNOMEDCT:</strong> 721972001;
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<strong>ORPHA:</strong> 69085;
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3q28
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Limb-mammary syndrome
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Autosomal dominant
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TP63
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603273
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<p>A number sign (#) is used with this entry because of evidence that limb-mammary syndrome is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC syndrome-3 (EEC3; 604292), AEC syndrome (106260), ADULT syndrome (103285), Rapp-Hodgkin syndrome (RHS; 129400), and split-hand/foot malformation-4 (SHFM4; 605289).</p>
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<p>Limb-mammary syndrome (LMS) is an autosomal dominant disorder characterized by variable expressivity of severe hand and/or foot anomalies (deficiencies, duplications, and fusion/separation defects) and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal duct atresia, nail dysplasia hypohidrosis, hypodontia, and cleft palate with or without bifid uvula (Van Bokhoven et al., 1999). </p>
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<p>Van Bokhoven et al. (1999) described a 'new' syndrome, which they designated limb-mammary syndrome, in a large 9-generation Dutch family, in which van Bokhoven and Brunner (2002) reported mutation in the TP63 gene. Consistent features were severe hand/foot anomalies and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings included lacrimal-duct atresia, nail dysplasia, hypohidrosis, hypodontia, and cleft palate with or without bifid uvula. </p><p>Van Bokhoven et al. (2001) reported 2 unrelated patients (BX and DW) with LMS and mutation in the TP63 gene. Patient BX had bilateral split-hand/foot malformations (SHFM), isolated cleft palate, and normal hair, skin, and teeth, but absent nipples. Patient DW had bilateral SHFM, absence of the lacrimal punctae, bilateral ear pits, submucous cleft palate, and absent nipples, as well as anteriorly placed anus. </p><p>Guazzarotti et al. (2008) described a 14-year-old girl with LMS, previously reported by van Bokhoven et al. (2001) as patient BX, who presented with primary amenorrhea and was found to have absence of the uterus and ovaries on abdominal MRI. She had normal development of external genitalia and pubic hair, and normal morphology of the lower vaginal tract; hormonal evaluation revealed hypergonadotropic hypogonadism with a very low plasma estrogen level. Guazzarotti et al. (2008) stated that this was the first report of female gonadal dysgenesis in the group of EEC and related conditions. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Mathorne et al. (2020) reported 6 affected individuals over 2 generations of a Danish family who had features consistent with LMS but without limb anomalies, and mutation in the TP63 gene. The affected individuals were 4 sibs, their father, and their paternal uncle. All 6 affected family members had nipple abnormalities, including supernumerary, split, small, bean-shaped, and widely spaced nipples. Lacrimal duct atresia was present in 4 of the 6 patients, and dental anomalies, including tooth agenesis, severe decay, and moderate to severe attrition, were observed in 3 patients. The 2 affected sisters had mammary gland and nipple hypoplasia, ovarian agenesis, and uterine hypoplasia. No ovaries were detected by MRI. With estrogen treatment, the uterine size increased to normal or near-normal and the sisters had menstrual periods; thus, the authors considered the uterine hypoplasia to be secondary to ovarian insufficiency. The father had hypoplastic toenails, 1 brother was born with cleft palate, and the paternal uncle also had anteriorly placed anus. None of the affected individuals exhibited split hand/foot or syndactyly. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LMS in the family reported by van Bokhoven et al. (1999) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>By genomewide screening with polymorphic markers in a large Dutch family with LMS, van Bokhoven et al. (1999) localized the genetic defect to the subtelomeric region of chromosome 3q. The maximum lod score obtained was 12.014 at a recombination fraction of 0 for marker D3S3530. Haplotype analysis reduced the critical region to a 3-cM interval on chromosome 3q27 between D3S1580 and D3S1314. </p><p>To investigate the possibility that EEC syndrome is allelic to LMS, Celli et al. (1999) used polymorphic markers from the 3q27 region for a linkage analysis in 5 families with EEC syndrome. Positive lod scores were obtained with markers from within the LMS interval for each of these families. The added Zmax across these families was 8.03 at marker D3S3530 at a recombination fraction theta = 0. Recombination events were observed between markers that define the LMS interval, D3S1580 and D3S1314, and the disease locus, indicating that these 5 EEC syndrome families map to the same 3-cM region of 3q27 that had been found for the LMS family reported by van Bokhoven et al. (1999). This colocalization and the overlapping clinical features of these disorders strongly suggested that the same gene is involved in this form of EEC syndrome (EEC3; 604292) and LMS. The critical region for EEC3/LMS was reduced to a 2.3-cM interval by a recombination event between marker D3S3530 and the genetic defect in EEC3 family Bri-1 (64:1 odds). Analysis of the p63 gene (TP63; 603273), a homolog of p53 located in the critical LMS/EEC3 interval, revealed heterozygous mutations in 9 unrelated EEC3 families. No mutations were identified in the LMS family and several other EEC3 families mapping to chromosome 3q27. Celli et al. (1999) suggested that these mutations most likely reside in other parts of the TP63 gene not yet analyzed, including exons 1 to 4 and 15. </p><p>Because of the phenotypic similarity between a family with the ADULT syndrome (103285) described by Propping and Zerres (1993) and a family with LMS syndrome mapping to chromosome 3q27, Propping et al. (2000) genotyped 21 members of the family with ADULT syndrome with 19 polymorphic markers from the 3q27 chromosome region. Their studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a large Dutch family with LMS, van Bokhoven et al. (1999) noted phenotypic overlap with the ulnar mammary syndrome (UMS; 181450), which is caused by mutation in the TBX3 gene (601621) on 12q24.1, as well as with the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC), 1 form of which maps to chromosome 7q (EEC1; 129900). However, allelism with UMS and EEC1 was excluded by linkage studies with markers from the relevant chromosomal regions. </p>
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<strong>Molecular Genetics</strong>
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<p>Van Bokhoven et al. (2001) sequenced the TP63 gene in 2 unrelated patients with LMS (patients BX and DW) as well as in the large Dutch family originally reported by van Bokhoven et al. (1999). Patient BX was heterozygous for a 2-bp deletion in exon 13 of the TP63 gene (603273.0012), whereas patient DW was heterozygous for a 2-bp deletion in exon 14 (603273.0013). No mutation in the TP63 gene was identified in the original Dutch family with LMS mapping to 3q27; the authors suggested that their mutation was likely to reside outside the P63 coding region, in an intron or regulatory region of the gene. </p><p>Van Bokhoven and Brunner (2002) stated that a G76W substitution in exon 4 of the TP63 gene, just upstream of the TA domain, had been found in the large 9-generation Dutch family with LMS that was originally described by van Bokhoven et al. (1999). </p><p>In affected members of a Danish family with features of LMS but without limb anomalies, Mathorne et al. (2020) identified heterozygosity for a nonsense mutation in the TP63 gene (R643X; 603273.0035). The mutation segregated with disease in the family and was not found in the gnomAD database. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In a large Dutch family with LMS mapping to chromosome 3q27, van Bokhoven et al. (1999) considered the SOX2 gene to be an excellent candidate gene because the gene product stimulates expression of fibroblast growth factor-4 (FGF4; 164980), an important signaling molecule during limb outgrowth and development. However, Southern blot analysis excluded a large deletion as the cause of the disorder, and screening the gene by SSCP analysis and sequencing both DNA strands did not reveal any mutations in the SOX2 open reading frame. </p>
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<strong>REFERENCES</strong>
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Celli, J., Duijf, P., Hamel, B. C. J., Bamshad, M., Kramer, B., Smits, A. P. T., Newbury-Ecob, R., Hennekam, R. C. M., Van Buggenhout, G., van Haeringen, A., Woods, C. G., van Essen, A. J., de Waal, R., Vriend, G., Haber, D. A., Yang, A., McKeon, F., Brunner, H. G., van Bokhoven, H.
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<strong>Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.</strong>
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Cell 99: 143-153, 1999.
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[PubMed: 10535733]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)81646-3]
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</p>
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Guazzarotti, L., Caprio, C., Rinne, T. K., Bosoni, M., Pattarino, G., Mauri, S., Tadini, G. L., van Bokhoven, H., Zuccotti, G. V.
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<strong>Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?</strong>
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Am. J. Med. Genet. 146A: 2001-2004, 2008.
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[PubMed: 18627043]
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[Full Text: https://doi.org/10.1002/ajmg.a.32371]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mathorne, S. W., Ravn, P., Hansen, D., Beck-Nielsen, S. S., Gjorup, H., Sorensen, K. P., Fagerberg, C. R.
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<strong>Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</strong>
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Clin. Genet. 97: 779-784, 2020.
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[PubMed: 32067224]
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[Full Text: https://doi.org/10.1111/cge.13725]
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</li>
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<li>
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Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K.
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<strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong>
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Am. J. Med. Genet. 90: 179-182, 2000.
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[PubMed: 10607963]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Propping, P., Zerres, K.
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<strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong>
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Am. J. Med. Genet. 45: 642-648, 1993.
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[PubMed: 8456838]
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[Full Text: https://doi.org/10.1002/ajmg.1320450525]
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</li>
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<li>
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van Bokhoven, H., Brunner, H. G.
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<strong>Splitting p63.</strong>
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Am. J. Hum. Genet. 71: 1-13, 2002. Note: Erratum: Am. J. Hum. Genet. 72: 779 only, 2003.
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[PubMed: 12037717]
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[Full Text: https://doi.org/10.1086/341450]
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van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H., Vanmolkot, K. R., van Beusekom, E., van Beersum, S. E., Celli, J., Merkx, G. F., Tenconi, R., and 13 others.
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<strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 69: 481-492, 2001.
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[PubMed: 11462173]
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[Full Text: https://doi.org/10.1086/323123]
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</p>
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</li>
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<li>
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van Bokhoven, H., Jung, M., Smits, A. P. T., van Beersum, S., Ruschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J. H. A. M., Mariman, E. C. M., Brunner, H. G., Wienker, T. F., Reis, A., Ropers, H.-H., Hamel, B. C. J.
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<strong>Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.</strong>
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Am. J. Hum. Genet. 64: 538-546, 1999.
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[PubMed: 9973291]
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[Full Text: https://doi.org/10.1086/302246]
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Marla J. F. O'Neill - updated : 04/04/2023<br>Anne M. Stumpf - updated : 03/17/2020<br>Marla J. F. O'Neill - updated : 6/1/2009<br>Sonja A. Rasmussen - updated : 10/11/2000<br>Stylianos E. Antonarakis - updated : 11/11/1999
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Victor A. McKusick : 2/17/1999
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