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<title>
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Entry
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- #132800 - MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE
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- OMIM
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<span class="h4">#132800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/132800"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</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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<div><a href="https://clinicaltrials.gov/search?cond=(MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA) OR (TGFBR1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10877&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4971" 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=132800[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=65748" 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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<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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<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>ORPHA:</strong> 65748<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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132800
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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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MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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FERGUSON-SMITH-TYPE EPITHELIOMA<br />
|
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ESS1, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/9/355?start=-3&limit=10&highlight=355">
|
|
9q22.33
|
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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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{Multiple self-healing squamous epithelioma, susceptibility to}
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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/132800"> 132800 </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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TGFBR1
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<span class="mim-font">
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<a href="/entry/190181"> 190181 </a>
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<a href="/clinicalSynopsis/132800" 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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<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/132800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/132800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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 />
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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<span class="h5 mim-font">
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<em> Skin </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Squamous epitheliomas, multiple <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851518</a>]</span><br /> -
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Tumors appear most often on sun-exposed regions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851519</a>]</span><br /> -
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Tumors are locally invasive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851520</a>]</span><br /> -
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Tumors undergo spontaneous resolution over a period of months <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851521</a>]</span><br /> -
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Tumors leave pitting scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851522</a>]</span><br />
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<em> Skin Histology </em>
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- Tumors are morphologically similar to well-differentiated squamous cell carcinoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851523</a>]</span><br />
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<span class="h5 mim-font">
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<strong> NEOPLASIA </strong>
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- Squamous epitheliomas, multiple <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851518</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Variable age at onset (8 to 62 years)<br /> -
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Increased frequency in individuals originating from Western Scotland<br />
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</span>
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<strong> MOLECULAR BASIS </strong>
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- Susceptibility conferred by mutation in the transforming growth factor-beta receptor, type I gene (TGFBR1, <a href="/entry/190181#0009">190181.0009</a>).<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because susceptibility to multiple self-healing squamous epithelioma (MSSE) is conferred by heterozygous loss-of-function mutation in the TGFBR1 gene (<a href="/entry/190181">190181</a>) on chromosome 9q22.</p>
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<strong>Description</strong>
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<p>Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (<a href="#3" class="mim-tip-reference" title="Bose, S., Morgan, L. J., Booth, D. R., Goudie, D. R., Ferguson-Smith, M. A., Richards, F. M. <strong>The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.</strong> Oncogene 25: 806-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170343</a>] [<a href="https://doi.org/10.1038/sj.onc.1209092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16170343">Bose et al., 2006</a>). MSSE has been considered to be a variety of multiple keratoacanthoma (<a href="#1" class="mim-tip-reference" title="Biskind, G. R., Epstein, N. N., Pollack, R. S. <strong>Multiple primary self-healing squamous-cell epitheliomas of the skin: generalized keratoacanthoma.</strong> AMA Arch. Derm. 75: 210-223, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13393790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13393790</a>] [<a href="https://doi.org/10.1001/archderm.1957.01550140054009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13393790">Biskind et al., 1957</a>; <a href="#14" class="mim-tip-reference" title="Haydey, R. P., Reed, M. L., Dzubow, L. M., Shupack, J. L. <strong>Treatment of keratoacanthomas with oral 13-cis-retinoic acid.</strong> New Eng. J. Med. 303: 560-562, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931285</a>] [<a href="https://doi.org/10.1056/NEJM198009043031005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6931285">Haydey et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6931285+16170343+13393790" 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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<strong>Clinical Features</strong>
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<p><a href="#9" class="mim-tip-reference" title="Ferguson Smith, J. <strong>A case of multiple primary squamous-celled carcinomata of the skin in a young man, with spontaneous healing.</strong> Brit. J. Derm. 46: 267-272, 1934."None>Ferguson Smith (1934)</a> first described this disorder in a single case, that of a 23-year-old miner, who first developed spots on the legs at age 16 years. The lesions healed spontaneously, but were replaced by others at neighboring sites and later on the face and ears. A depressed scar remained after healing. The lesions resembled squamous carcinoma clinically and histologically. He continued to work except for a few months when lesions on the knees prevented him from kneeling. <a href="#10" class="mim-tip-reference" title="Ferguson Smith, J. <strong>Multiple primary, self-healing squamous epithelioma of the skin.</strong> Brit. J. Derm. 60: 315-319, 1948."None>Ferguson Smith (1948)</a> provided a follow-up of this patient. Treatment of large lesions on his right leg with radium was 'followed by necrosis of the tibia, and ultimately, at the patient's own request...amputation below the knee.' He was wearing a prosthesis to cover an extensive destruction of the nose. <a href="#7" class="mim-tip-reference" title="Ferguson-Smith, M. A. <strong>Personal Communication.</strong> Glasgow, Scotland 1974."None>Ferguson-Smith (1974)</a> reported that the patient died of 'suppurative meningitis' in December 1948. Autopsy findings were reported by <a href="#4" class="mim-tip-reference" title="Currie, A. R., Ferguson Smith, J. <strong>Multiple primary spontaneous-healing squamous-cell carcinomata of the skin.</strong> J. Path. Bact. 64: 827-839, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13000595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13000595</a>] [<a href="https://doi.org/10.1002/path.1700640415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13000595">Currie and Ferguson Smith (1952)</a>. In addition to the face, ears, arms and legs, the skin of the anus, scrotum and anterior abdominal wall were affected. All tumors were well-differentiated squamous epitheliomata with lymphatic infiltration of the anal and aural lesions. The anal tumor infiltrated the sphincter and muscle coats of the anal canal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13000595" 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="#16" class="mim-tip-reference" title="Sommerville, J., Milne, J. A. <strong>Familial primary self-healing squamous epithelioma of the skin.</strong> Brit. J. Derm. Syph. 62: 485-490, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24539565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24539565</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1950.tb14350.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24539565">Sommerville and Milne (1950)</a> reported 2 cases in each of 2 successive generations. Affected father and son were referred to by <a href="#1" class="mim-tip-reference" title="Biskind, G. R., Epstein, N. N., Pollack, R. S. <strong>Multiple primary self-healing squamous-cell epitheliomas of the skin: generalized keratoacanthoma.</strong> AMA Arch. Derm. 75: 210-223, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13393790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13393790</a>] [<a href="https://doi.org/10.1001/archderm.1957.01550140054009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13393790">Biskind et al. (1957)</a>. <a href="#5" class="mim-tip-reference" title="Degos, R., Civatte, J., Touraine, B., Guilaine, J. <strong>Spontan-heilende Epitheliome Ferguson-Smith und multiple familiaere Keratoacanthome.</strong> Hautarzt 15: 7-11, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14134562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14134562</a>]" pmid="14134562">Degos et al. (1964)</a> described the condition in a woman and 2 daughters. <a href="#6" class="mim-tip-reference" title="Ereaux, L. P., Schopflocher, P. <strong>Familial primary self-healing squamous epithelioma of skin:Ferguson-Smith type.</strong> Arch. Derm. 91: 589-594, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14295519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14295519</a>] [<a href="https://doi.org/10.1001/archderm.1965.01600120021004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14295519">Ereaux and Schopflocher (1965)</a> observed affected brother and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13393790+14134562+24539565+14295519" 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="#8" class="mim-tip-reference" title="Ferguson-Smith, M. A., Wallace, D. C., James, Z. H., Renwick, J. H. <strong>Multiple self-healing squamous epithelioma.</strong> Birth Defects Orig. Art. Ser. VII(8): 157-163, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173258</a>]" pmid="5173258">Ferguson-Smith et al. (1971)</a>, the geneticist son of the dermatologist who first described this condition, reviewed 62 cases in western Scotland. The lesions were found more frequently on exposed areas of the skin. Two girls had their first lesion during their thirteenth year; the oldest onset in a male was at age 56 and in a female at age 55. The mean age of onset in women was 25.5 and in men 26.9. Many examples of male-to-male transmission, equal involvement of the sexes, and precise agreement with the 50:50 segregation ratio proved autosomal dominant inheritance. A single instance of 'skipped generation' was found: the daughter of an affected male and mother of 2 affected daughters had unblemished skin when fully examined at age 57. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In studies of 13 affected families, <a href="#12" class="mim-tip-reference" title="Goudie, D. R., Yuille, M. A. R., Affara, N. A., Ferguson-Smith, M. A. <strong>Localisation of the gene for multiple self-healing squamous epithelioma (Ferguson-Smith type) to the long arm of chromosome 9. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1939 only, 1991."None>Goudie et al. (1991)</a> demonstrated linkage between the MSSE locus and several markers on chromosome 9q31 (maximum lod score of 8.05 at marker D9S29). <a href="#13" class="mim-tip-reference" title="Goudie, D. R., Yuille, M. A. R., Leversha, M. A., Furlong, R. A., Carter, N. P., Lush, M. J., Affara, N. A., Ferguson-Smith, M. A. <strong>Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.</strong> Nature Genet. 3: 165-169, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499949</a>] [<a href="https://doi.org/10.1038/ng0293-165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499949">Goudie et al. (1993)</a> found tight linkage of the locus, which they designated ESS1, to 9q31 (maximum lod score of 9.02 at D9S53). Multipoint linkage analysis demonstrated that the disease locus probably lies between D9S58 (9q22.3-q31) and ASSP3, a pseudogene of argininosuccinate synthetase (ASS; <a href="/entry/603470">603470</a>), located at 9q11-q22. Comparison of markers associated with MESS in independently ascertained families suggested a common origin of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499949" 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>By direct sequencing and polymorphism analysis of affected individuals, <a href="#15" class="mim-tip-reference" title="Richards, F. M., Goudie, D. R., Cooper, W. N., Jene, Q., Barroso, I., Wicking, C., Wainwright, B. J., Ferguson-Smith, M. A. <strong>Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and patched (PTCH) as candidate genes.</strong> Hum. Genet. 101: 317-322, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439661</a>] [<a href="https://doi.org/10.1007/s004390050635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9439661">Richards et al. (1997)</a> excluded the XPA (<a href="/entry/611153">611153</a>) gene as the site of the mutation in MSSE. The Patched (PTCH; <a href="/entry/601309">601309</a>) gene is mutated in Gorlin syndrome (<a href="/entry/109400">109400</a>); MSSE families were shown to share a common haplotype at 3 novel intragenic PTCH polymorphisms. Although no mutations were detected in MSSE families, PTCH was not excluded as the MSSE gene. <a href="#15" class="mim-tip-reference" title="Richards, F. M., Goudie, D. R., Cooper, W. N., Jene, Q., Barroso, I., Wicking, C., Wainwright, B. J., Ferguson-Smith, M. A. <strong>Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and patched (PTCH) as candidate genes.</strong> Hum. Genet. 101: 317-322, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439661</a>] [<a href="https://doi.org/10.1007/s004390050635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9439661">Richards et al. (1997)</a> concluded that the MSSE gene is on chromosome 9q22.3 between D9S197 and D9S287/D9S1809. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9439661" 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="Blair, I. P., Hulme, D., Dawkins, J. L., Nicholson, G. A. <strong>A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.</strong> Genomics 51: 277-281, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9722951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9722951</a>] [<a href="https://doi.org/10.1006/geno.1998.5373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9722951">Blair et al. (1998)</a> generated an integrated physical and genetic map of 9q22.1-q22.3. This region encompasses the MSSE critical interval, which the authors estimated at 2 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9722951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bose, S., Morgan, L. J., Booth, D. R., Goudie, D. R., Ferguson-Smith, M. A., Richards, F. M. <strong>The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.</strong> Oncogene 25: 806-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170343</a>] [<a href="https://doi.org/10.1038/sj.onc.1209092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16170343">Bose et al. (2006)</a> refined the MSSE critical region to a less than 1-cM interval between the ZNF169 (<a href="/entry/603404">603404</a>) and FANCC (<a href="/entry/227645">227645</a>) genes. The authors noted that there were some discrepancies between the physical assembly of the genome and the genetic map of this region. They found the order of markers to be D9S196-ZNF169-D9S280-FANCC-D9S1816-D9S287. Genetic mapping excluded the ZNF169, FANCC, PTCH, and TGFBR1 (<a href="/entry/190181">190181</a>) genes as involved in MSSE; further molecular analysis excluded the CDC14B (<a href="/entry/603505">603505</a>) gene. Molecular analysis of tissue from 5 of 12 tumors showed loss of heterozygosity of the MSSE region, with loss of the normal allele. The findings indicated that the MSSE gene is likely a tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16170343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 18 different families with MSSE, <a href="#11" class="mim-tip-reference" title="Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., and 11 others. <strong>Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.</strong> Nature Genet. 43: 365-369, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21358634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21358634</a>] [<a href="https://doi.org/10.1038/ng.780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21358634">Goudie et al. (2011)</a> identified 11 different heterozygous mutations in the TGFBR1 gene (see, e.g., <a href="/entry/190181#0009">190181.0009</a>-<a href="/entry/190181#0012">190181.0012</a>). The first mutations were found using high-throughput genomic sequencing and exon array capture of a 24.2-Mb region containing the MSSE locus; additional families were studied by sequencing. One mutation, G52R (<a href="/entry/190181#0010">190181.0010</a>), was found in 6 Scottish families, including those reported by <a href="#8" class="mim-tip-reference" title="Ferguson-Smith, M. A., Wallace, D. C., James, Z. H., Renwick, J. H. <strong>Multiple self-healing squamous epithelioma.</strong> Birth Defects Orig. Art. Ser. VII(8): 157-163, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173258</a>]" pmid="5173258">Ferguson-Smith et al. (1971)</a>. The mutations identified by <a href="#11" class="mim-tip-reference" title="Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., and 11 others. <strong>Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.</strong> Nature Genet. 43: 365-369, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21358634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21358634</a>] [<a href="https://doi.org/10.1038/ng.780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21358634">Goudie et al. (2011)</a> occurred in either the extracellular ligand-binding domain or in the serine/threonine kinase domain of the protein, and all were predicted or demonstrated to result in loss of receptor function. Several mutation carriers were unaffected, and tumor tissue from some patients showed loss of heterozygosity for the wildtype allele. Overall, the findings were consistent with wildtype TGFBR1 acting as a tumor suppressor, until somatic deletion by a classic second hit results in carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5173258+21358634" 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="Ferguson-Smith, M. A., Wallace, D. C., James, Z. H., Renwick, J. H. <strong>Multiple self-healing squamous epithelioma.</strong> Birth Defects Orig. Art. Ser. VII(8): 157-163, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173258</a>]" pmid="5173258">Ferguson-Smith et al. (1971)</a> assembled reliable information on 62 cases in western Scotland, and suggested that all the Scottish cases derived from a single mutation which occurred before 1790. The Scottish cases were in 11 independently ascertained families but the genealogic connections of some could be demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173258" 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 symbol for the self-healing squamous epithelioma locus on chromosome 9 was changed from ESS1 to MSSE when it was discovered that the symbol ESS1 was already used for a cell division gene in Saccharomyces cerevisiae (<a href="#15" class="mim-tip-reference" title="Richards, F. M., Goudie, D. R., Cooper, W. N., Jene, Q., Barroso, I., Wicking, C., Wainwright, B. J., Ferguson-Smith, M. A. <strong>Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and patched (PTCH) as candidate genes.</strong> Hum. Genet. 101: 317-322, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439661</a>] [<a href="https://doi.org/10.1007/s004390050635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9439661">Richards et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9439661" 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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<strong>Multiple primary self-healing squamous-cell epitheliomas of the skin: generalized keratoacanthoma.</strong>
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AMA Arch. Derm. 75: 210-223, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13393790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13393790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13393790" 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/10.1001/archderm.1957.01550140054009" target="_blank">Full Text</a>]
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<strong>A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.</strong>
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Genomics 51: 277-281, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9722951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9722951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9722951" 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/10.1006/geno.1998.5373" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Bose2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bose, S., Morgan, L. J., Booth, D. R., Goudie, D. R., Ferguson-Smith, M. A., Richards, F. M.
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<strong>The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.</strong>
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Oncogene 25: 806-812, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16170343" 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/10.1038/sj.onc.1209092" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Currie1952" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Currie, A. R., Ferguson Smith, J.
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<strong>Multiple primary spontaneous-healing squamous-cell carcinomata of the skin.</strong>
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J. Path. Bact. 64: 827-839, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13000595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13000595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13000595" 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/path.1700640415" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Degos1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Degos, R., Civatte, J., Touraine, B., Guilaine, J.
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<strong>Spontan-heilende Epitheliome Ferguson-Smith und multiple familiaere Keratoacanthome.</strong>
|
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Hautarzt 15: 7-11, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14134562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14134562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14134562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ereaux1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ereaux, L. P., Schopflocher, P.
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<strong>Familial primary self-healing squamous epithelioma of skin:Ferguson-Smith type.</strong>
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Arch. Derm. 91: 589-594, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14295519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14295519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14295519" 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/10.1001/archderm.1965.01600120021004" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ferguson-Smith1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ferguson-Smith, M. A.
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<strong>Personal Communication.</strong>
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Glasgow, Scotland 1974.
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</p>
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</div>
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<a id="8" class="mim-anchor"></a>
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<a id="Ferguson-Smith1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ferguson-Smith, M. A., Wallace, D. C., James, Z. H., Renwick, J. H.
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<strong>Multiple self-healing squamous epithelioma.</strong>
|
|
Birth Defects Orig. Art. Ser. VII(8): 157-163, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="9" class="mim-anchor"></a>
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<a id="Ferguson Smith1934" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ferguson Smith, J.
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<strong>A case of multiple primary squamous-celled carcinomata of the skin in a young man, with spontaneous healing.</strong>
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Brit. J. Derm. 46: 267-272, 1934.
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<a id="10" class="mim-anchor"></a>
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<a id="Ferguson Smith1948" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ferguson Smith, J.
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<strong>Multiple primary, self-healing squamous epithelioma of the skin.</strong>
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Brit. J. Derm. 60: 315-319, 1948.
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Goudie2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., and 11 others.
|
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<strong>Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.</strong>
|
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Nature Genet. 43: 365-369, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21358634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21358634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21358634" 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/10.1038/ng.780" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Goudie1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goudie, D. R., Yuille, M. A. R., Affara, N. A., Ferguson-Smith, M. A.
|
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<strong>Localisation of the gene for multiple self-healing squamous epithelioma (Ferguson-Smith type) to the long arm of chromosome 9. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 58: 1939 only, 1991.
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Goudie1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goudie, D. R., Yuille, M. A. R., Leversha, M. A., Furlong, R. A., Carter, N. P., Lush, M. J., Affara, N. A., Ferguson-Smith, M. A.
|
|
<strong>Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.</strong>
|
|
Nature Genet. 3: 165-169, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499949" 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/10.1038/ng0293-165" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Haydey1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Haydey, R. P., Reed, M. L., Dzubow, L. M., Shupack, J. L.
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<strong>Treatment of keratoacanthomas with oral 13-cis-retinoic acid.</strong>
|
|
New Eng. J. Med. 303: 560-562, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6931285" 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/10.1056/NEJM198009043031005" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Richards1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Richards, F. M., Goudie, D. R., Cooper, W. N., Jene, Q., Barroso, I., Wicking, C., Wainwright, B. J., Ferguson-Smith, M. A.
|
|
<strong>Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and patched (PTCH) as candidate genes.</strong>
|
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Hum. Genet. 101: 317-322, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9439661" 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/10.1007/s004390050635" target="_blank">Full Text</a>]
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Sommerville1950" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sommerville, J., Milne, J. A.
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<strong>Familial primary self-healing squamous epithelioma of the skin.</strong>
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Brit. J. Derm. Syph. 62: 485-490, 1950.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24539565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24539565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24539565" 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/j.1365-2133.1950.tb14350.x" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/22/2011
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/2/2006<br>Sheryl A. Jankowski - updated : 12/22/1998<br>Victor A. McKusick - updated : 2/11/1998
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/11/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/26/2016<br>wwang : 4/25/2011<br>ckniffin : 4/22/2011<br>wwang : 7/29/2009<br>carol : 7/12/2007<br>carol : 5/4/2006<br>ckniffin : 5/2/2006<br>carol : 3/18/2004<br>psherman : 12/22/1998<br>carol : 7/8/1998<br>alopez : 2/11/1998<br>dholmes : 2/4/1998<br>mimadm : 9/24/1994<br>davew : 6/27/1994<br>warfield : 4/20/1994<br>carol : 2/21/1994<br>carol : 3/30/1993<br>supermim : 3/16/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 132800
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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FERGUSON-SMITH-TYPE EPITHELIOMA<br />
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ESS1, FORMERLY
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 65748;
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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9q22.33
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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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{Multiple self-healing squamous epithelioma, susceptibility to}
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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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132800
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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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Autosomal dominant
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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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3
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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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TGFBR1
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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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190181
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because susceptibility to multiple self-healing squamous epithelioma (MSSE) is conferred by heterozygous loss-of-function mutation in the TGFBR1 gene (190181) on chromosome 9q22.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ferguson Smith (1934) first described this disorder in a single case, that of a 23-year-old miner, who first developed spots on the legs at age 16 years. The lesions healed spontaneously, but were replaced by others at neighboring sites and later on the face and ears. A depressed scar remained after healing. The lesions resembled squamous carcinoma clinically and histologically. He continued to work except for a few months when lesions on the knees prevented him from kneeling. Ferguson Smith (1948) provided a follow-up of this patient. Treatment of large lesions on his right leg with radium was 'followed by necrosis of the tibia, and ultimately, at the patient's own request...amputation below the knee.' He was wearing a prosthesis to cover an extensive destruction of the nose. Ferguson-Smith (1974) reported that the patient died of 'suppurative meningitis' in December 1948. Autopsy findings were reported by Currie and Ferguson Smith (1952). In addition to the face, ears, arms and legs, the skin of the anus, scrotum and anterior abdominal wall were affected. All tumors were well-differentiated squamous epitheliomata with lymphatic infiltration of the anal and aural lesions. The anal tumor infiltrated the sphincter and muscle coats of the anal canal. </p><p>Sommerville and Milne (1950) reported 2 cases in each of 2 successive generations. Affected father and son were referred to by Biskind et al. (1957). Degos et al. (1964) described the condition in a woman and 2 daughters. Ereaux and Schopflocher (1965) observed affected brother and sister. </p><p>Ferguson-Smith et al. (1971), the geneticist son of the dermatologist who first described this condition, reviewed 62 cases in western Scotland. The lesions were found more frequently on exposed areas of the skin. Two girls had their first lesion during their thirteenth year; the oldest onset in a male was at age 56 and in a female at age 55. The mean age of onset in women was 25.5 and in men 26.9. Many examples of male-to-male transmission, equal involvement of the sexes, and precise agreement with the 50:50 segregation ratio proved autosomal dominant inheritance. A single instance of 'skipped generation' was found: the daughter of an affected male and mother of 2 affected daughters had unblemished skin when fully examined at age 57. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In studies of 13 affected families, Goudie et al. (1991) demonstrated linkage between the MSSE locus and several markers on chromosome 9q31 (maximum lod score of 8.05 at marker D9S29). Goudie et al. (1993) found tight linkage of the locus, which they designated ESS1, to 9q31 (maximum lod score of 9.02 at D9S53). Multipoint linkage analysis demonstrated that the disease locus probably lies between D9S58 (9q22.3-q31) and ASSP3, a pseudogene of argininosuccinate synthetase (ASS; 603470), located at 9q11-q22. Comparison of markers associated with MESS in independently ascertained families suggested a common origin of the disease. </p><p>By direct sequencing and polymorphism analysis of affected individuals, Richards et al. (1997) excluded the XPA (611153) gene as the site of the mutation in MSSE. The Patched (PTCH; 601309) gene is mutated in Gorlin syndrome (109400); MSSE families were shown to share a common haplotype at 3 novel intragenic PTCH polymorphisms. Although no mutations were detected in MSSE families, PTCH was not excluded as the MSSE gene. Richards et al. (1997) concluded that the MSSE gene is on chromosome 9q22.3 between D9S197 and D9S287/D9S1809. </p><p>Blair et al. (1998) generated an integrated physical and genetic map of 9q22.1-q22.3. This region encompasses the MSSE critical interval, which the authors estimated at 2 Mb. </p><p>Bose et al. (2006) refined the MSSE critical region to a less than 1-cM interval between the ZNF169 (603404) and FANCC (227645) genes. The authors noted that there were some discrepancies between the physical assembly of the genome and the genetic map of this region. They found the order of markers to be D9S196-ZNF169-D9S280-FANCC-D9S1816-D9S287. Genetic mapping excluded the ZNF169, FANCC, PTCH, and TGFBR1 (190181) genes as involved in MSSE; further molecular analysis excluded the CDC14B (603505) gene. Molecular analysis of tissue from 5 of 12 tumors showed loss of heterozygosity of the MSSE region, with loss of the normal allele. The findings indicated that the MSSE gene is likely a tumor suppressor gene. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>In affected members of 18 different families with MSSE, Goudie et al. (2011) identified 11 different heterozygous mutations in the TGFBR1 gene (see, e.g., 190181.0009-190181.0012). The first mutations were found using high-throughput genomic sequencing and exon array capture of a 24.2-Mb region containing the MSSE locus; additional families were studied by sequencing. One mutation, G52R (190181.0010), was found in 6 Scottish families, including those reported by Ferguson-Smith et al. (1971). The mutations identified by Goudie et al. (2011) occurred in either the extracellular ligand-binding domain or in the serine/threonine kinase domain of the protein, and all were predicted or demonstrated to result in loss of receptor function. Several mutation carriers were unaffected, and tumor tissue from some patients showed loss of heterozygosity for the wildtype allele. Overall, the findings were consistent with wildtype TGFBR1 acting as a tumor suppressor, until somatic deletion by a classic second hit results in carcinogenesis. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
|
<span class="mim-text-font">
|
|
<p>Ferguson-Smith et al. (1971) assembled reliable information on 62 cases in western Scotland, and suggested that all the Scottish cases derived from a single mutation which occurred before 1790. The Scottish cases were in 11 independently ascertained families but the genealogic connections of some could be demonstrated. </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>The symbol for the self-healing squamous epithelioma locus on chromosome 9 was changed from ESS1 to MSSE when it was discovered that the symbol ESS1 was already used for a cell division gene in Saccharomyces cerevisiae (Richards et al., 1997). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
|
<div>
|
|
<ol>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Biskind, G. R., Epstein, N. N., Pollack, R. S.
|
|
<strong>Multiple primary self-healing squamous-cell epitheliomas of the skin: generalized keratoacanthoma.</strong>
|
|
AMA Arch. Derm. 75: 210-223, 1957.
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[PubMed: 13393790]
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[Full Text: https://doi.org/10.1001/archderm.1957.01550140054009]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Blair, I. P., Hulme, D., Dawkins, J. L., Nicholson, G. A.
|
|
<strong>A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.</strong>
|
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Genomics 51: 277-281, 1998.
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[PubMed: 9722951]
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[Full Text: https://doi.org/10.1006/geno.1998.5373]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bose, S., Morgan, L. J., Booth, D. R., Goudie, D. R., Ferguson-Smith, M. A., Richards, F. M.
|
|
<strong>The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.</strong>
|
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Oncogene 25: 806-812, 2006.
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[PubMed: 16170343]
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[Full Text: https://doi.org/10.1038/sj.onc.1209092]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Currie, A. R., Ferguson Smith, J.
|
|
<strong>Multiple primary spontaneous-healing squamous-cell carcinomata of the skin.</strong>
|
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J. Path. Bact. 64: 827-839, 1952.
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[PubMed: 13000595]
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[Full Text: https://doi.org/10.1002/path.1700640415]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Degos, R., Civatte, J., Touraine, B., Guilaine, J.
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<strong>Spontan-heilende Epitheliome Ferguson-Smith und multiple familiaere Keratoacanthome.</strong>
|
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Hautarzt 15: 7-11, 1964.
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[PubMed: 14134562]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ereaux, L. P., Schopflocher, P.
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<strong>Familial primary self-healing squamous epithelioma of skin:Ferguson-Smith type.</strong>
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Arch. Derm. 91: 589-594, 1965.
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[PubMed: 14295519]
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[Full Text: https://doi.org/10.1001/archderm.1965.01600120021004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ferguson-Smith, M. A.
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<strong>Personal Communication.</strong>
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Glasgow, Scotland 1974.
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ferguson-Smith, M. A., Wallace, D. C., James, Z. H., Renwick, J. H.
|
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<strong>Multiple self-healing squamous epithelioma.</strong>
|
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Birth Defects Orig. Art. Ser. VII(8): 157-163, 1971.
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[PubMed: 5173258]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ferguson Smith, J.
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<strong>A case of multiple primary squamous-celled carcinomata of the skin in a young man, with spontaneous healing.</strong>
|
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Brit. J. Derm. 46: 267-272, 1934.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ferguson Smith, J.
|
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<strong>Multiple primary, self-healing squamous epithelioma of the skin.</strong>
|
|
Brit. J. Derm. 60: 315-319, 1948.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., and 11 others.
|
|
<strong>Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.</strong>
|
|
Nature Genet. 43: 365-369, 2011.
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[PubMed: 21358634]
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[Full Text: https://doi.org/10.1038/ng.780]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Goudie, D. R., Yuille, M. A. R., Affara, N. A., Ferguson-Smith, M. A.
|
|
<strong>Localisation of the gene for multiple self-healing squamous epithelioma (Ferguson-Smith type) to the long arm of chromosome 9. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 58: 1939 only, 1991.
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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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Goudie, D. R., Yuille, M. A. R., Leversha, M. A., Furlong, R. A., Carter, N. P., Lush, M. J., Affara, N. A., Ferguson-Smith, M. A.
|
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<strong>Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.</strong>
|
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Nature Genet. 3: 165-169, 1993.
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[PubMed: 8499949]
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[Full Text: https://doi.org/10.1038/ng0293-165]
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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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Haydey, R. P., Reed, M. L., Dzubow, L. M., Shupack, J. L.
|
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<strong>Treatment of keratoacanthomas with oral 13-cis-retinoic acid.</strong>
|
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New Eng. J. Med. 303: 560-562, 1980.
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[PubMed: 6931285]
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[Full Text: https://doi.org/10.1056/NEJM198009043031005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Richards, F. M., Goudie, D. R., Cooper, W. N., Jene, Q., Barroso, I., Wicking, C., Wainwright, B. J., Ferguson-Smith, M. A.
|
|
<strong>Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and patched (PTCH) as candidate genes.</strong>
|
|
Hum. Genet. 101: 317-322, 1997.
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[PubMed: 9439661]
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[Full Text: https://doi.org/10.1007/s004390050635]
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</p>
|
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</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Sommerville, J., Milne, J. A.
|
|
<strong>Familial primary self-healing squamous epithelioma of the skin.</strong>
|
|
Brit. J. Derm. Syph. 62: 485-490, 1950.
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|
|
[PubMed: 24539565]
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|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1950.tb14350.x]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 4/22/2011<br>Cassandra L. Kniffin - updated : 5/2/2006<br>Sheryl A. Jankowski - updated : 12/22/1998<br>Victor A. McKusick - updated : 2/11/1998
|
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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