2269 lines
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Entry
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- #278740 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE
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- OMIM
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<span class="h4">#278740</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/278740"><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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3253&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1397/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9523" 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=278740[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=910" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110846" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/278740" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000735/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:278740" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 56048001<br />
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<strong>ORPHA:</strong> 910<br />
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<strong>DO:</strong> 0110846<br />
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">ICD+</a>
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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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278740
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</span>
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</span>
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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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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE
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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">
|
|
XP, GROUP E<br />
|
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XERODERMA PIGMENTOSUM V; XP5
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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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<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/11/357?start=-3&limit=10&highlight=357">
|
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11p11.2
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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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Xeroderma pigmentosum, group E, DDB-negative subtype
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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/278740"> 278740 </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 recessive">AR</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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DDB2
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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/600811"> 600811 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/278740" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/278740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/278740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Skin </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Skin photosensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> - Early onset skin cancer (basal cell, squamous cell and malignant melanoma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749216</a>]</span><br /> - Early freckle-like lesions in exposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749217</a>]</span><br /> - Poikiloderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402685001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402685001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70114006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70114006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001029</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001029</a>]</span><br /> - Increased/decreased skin pigment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231001</a>]</span><br /> - Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> - Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> - Actinic keratoses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/856006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">856006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201101007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201101007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L57.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L57.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/702.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">702.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025127</a>]</span><br /> - Angiomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1959588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1959588</a>]</span><br /> - Keratoacanthomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417264005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417264005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254662007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031525</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Eyes </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
- Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> - Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> - Keratitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5888003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5888003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022568</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000491</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000491</a>]</span><br /> - Ectropion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62909004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62909004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127559009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127559009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.109</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013592</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000656</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000656</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=32265f82e79debdf8a9f895c9d36e22a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ectropion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=32265f82e79debdf8a9f895c9d36e22a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> - Entropion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33168009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33168009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000621</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=939ef18339762126d658aed8271bac93" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Entropion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=939ef18339762126d658aed8271bac93" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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- Mild XP features<br /> - Minimal or no neurologic features<br />
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- Defective DNA repair after ultraviolet radiation damage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003079</a>]</span><br />
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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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<p>A number sign (#) is used with this entry because xeroderma pigmentosum complementation group E (XPE) is caused by homozygous mutation in the DDB2 gene (<a href="/entry/600811">600811</a>) on chromosome 11p11.</p>
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<div class="mim-changed mim-change"><p>Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to sunlight, a high frequency of cutaneous malignancies, and defective repair of ultraviolet (UV)-induced pyrimidine dimers in the DNA (summary by <a href="#6" class="mim-tip-reference" title="Kondo, S., Fukuro, S., Mamada, A., Kawada, A., Satoh, Y., Fujiwara, Y. <strong>Assignment of three patients with xeroderma pigmentosum to complementation group E and their characteristics.</strong> J. Invest. Derm. 90: 152-157, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3339259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3339259</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12462130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3339259">Kondo et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3339259" 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>For general phenotypic information on xeroderma pigmentosum, see <a href="/entry/278700">278700</a>.</p></div>
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<p><a href="#6" class="mim-tip-reference" title="Kondo, S., Fukuro, S., Mamada, A., Kawada, A., Satoh, Y., Fujiwara, Y. <strong>Assignment of three patients with xeroderma pigmentosum to complementation group E and their characteristics.</strong> J. Invest. Derm. 90: 152-157, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3339259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3339259</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12462130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3339259">Kondo et al. (1988)</a> studied 3 Japanese patients, aged 50, 42, and 41 years, with mild XP symptoms and no neurologic abnormalities. Two had developed basal cell carcinomas at ages 46 and 41 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3339259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chu, G., Chang, E. <strong>Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA.</strong> Science 242: 564-567, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3175673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3175673</a>] [<a href="https://doi.org/10.1126/science.3175673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3175673">Chu and Chang (1988)</a> studied cells from 2 second-cousin patients with group E xeroderma pigmentosum who had a skin disease less severe than that seen in patients of several other complementation groups (<a href="#3" class="mim-tip-reference" title="de Weerd-Kastelein, E., Keijzer, W., Bootsma, D. <strong>A third complementation group in xeroderma pigmentosum.</strong> Mutat. Res. 22: 87-91, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4842087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4842087</a>] [<a href="https://doi.org/10.1016/0027-5107(74)90013-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4842087">de Weerd-Kastelein et al., 1974</a>). Using an extension of the gel electrophoresis binding assay, <a href="#1" class="mim-tip-reference" title="Chu, G., Chang, E. <strong>Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA.</strong> Science 242: 564-567, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3175673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3175673</a>] [<a href="https://doi.org/10.1126/science.3175673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3175673">Chu and Chang (1988)</a> identified at least 1 nuclear factor that binds to DNA damaged by ultraviolet radiation or the antitumor drug cisplatin, but is notably absent in group E cells. The defect was not the result of a failure of protein transport to the nucleus since binding activity was absent in both the nuclear and cytoplasmic extracts. The nuclear factor was normally present in cells from groups A, B, C, D, F, G, and H. The absence of specific binding activity for damaged DNA in group E cells could be corrected by the addition of extracts from any 1 of these other groups, thus ruling out the possibility that group E cells contain a factor that inhibits binding activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3175673+4842087" 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="#4" class="mim-tip-reference" title="Keeney, S., Chang, G. J., Linn, S. <strong>Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E.</strong> J. Biol. Chem. 268: 21293-21300, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407967</a>]" pmid="8407967">Keeney et al. (1993)</a> purified to near homogeneity from HeLa cells a DNA damage-binding protein (DDB1; <a href="/entry/600045">600045</a>) implicated in xeroderma pigmentosum E. The protein was abundant and had a native molecular weight of about 160,000 as estimated by gel filtration and glycerol gradient sedimentation. DNA damage binding activity copurified with polypeptides of 124 and 41 kD. It appeared that the 2 polypeptides were subunits of a heterodimeric protein. <a href="#5" class="mim-tip-reference" title="Keeney, S., Eker, A. P. M., Brody, T., Vermeulen, W., Bootsma, D., Hoeijmakers, J. H. J., Linn, S. <strong>Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein.</strong> Proc. Nat. Acad. Sci. 91: 4053-4056, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8171034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8171034</a>] [<a href="https://doi.org/10.1073/pnas.91.9.4053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8171034">Keeney et al. (1994)</a> injected purified human DDB protein into XPE cells and showed that DNA repair was stimulated to normal levels in those strains that lacked the DDB activity but not in cells from other xeroderma pigmentosum groups or in the subset of XPE cells that contain the activity. These results provided direct evidence that defective DDB activity causes the repair defect in a subset of XPE patients, which in turn establishes a role for this activity in nucleotide-excision repair in vivo. Thus, there appear to be 2 types of xeroderma pigmentosum group E: a DDB-positive form and a DDB-negative form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8171034+8407967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Nichols, A. F., Ong, P., Linn, S. <strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong> J. Biol. Chem. 271: 24317-24320, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798680">Nichols et al. (1996)</a> identified mutations in the smaller component of the heterodimeric protein (p48), encoded by the DDB2 gene, in patients with the DDB-negative form of xeroderma pigmentosum group E (<a href="/entry/600811#0001">600811.0001</a>-<a href="/entry/600811#0002">600811.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" 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="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> recommended that XPE be defined explicitly through molecular terms, because assignment by complementation in culture had been difficult. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" 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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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Chu1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chu, G., Chang, E.
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<strong>Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA.</strong>
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Science 242: 564-567, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3175673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3175673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3175673" 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/10.1126/science.3175673" target="_blank">Full Text</a>]
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<a id="Cleaver1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="de Weerd-Kastelein1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Weerd-Kastelein, E., Keijzer, W., Bootsma, D.
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<strong>A third complementation group in xeroderma pigmentosum.</strong>
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Mutat. Res. 22: 87-91, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4842087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4842087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4842087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0027-5107(74)90013-x" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Keeney1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Keeney, S., Chang, G. J., Linn, S.
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<strong>Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E.</strong>
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J. Biol. Chem. 268: 21293-21300, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8407967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Keeney1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Keeney, S., Eker, A. P. M., Brody, T., Vermeulen, W., Bootsma, D., Hoeijmakers, J. H. J., Linn, S.
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<strong>Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein.</strong>
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Proc. Nat. Acad. Sci. 91: 4053-4056, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8171034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8171034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8171034" 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/10.1073/pnas.91.9.4053" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Kondo1988" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kondo, S., Fukuro, S., Mamada, A., Kawada, A., Satoh, Y., Fujiwara, Y.
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<strong>Assignment of three patients with xeroderma pigmentosum to complementation group E and their characteristics.</strong>
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J. Invest. Derm. 90: 152-157, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3339259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3339259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3339259" 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/10.1111/1523-1747.ep12462130" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Nichols1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nichols, A. F., Ong, P., Linn, S.
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<strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong>
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J. Biol. Chem. 271: 24317-24320, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" 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/10.1074/jbc.271.40.24317" target="_blank">Full Text</a>]
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Contributors:
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<span class="mim-text-font">
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Victor A. McKusick - updated : 7/21/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 12/12/2024
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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 : 11/22/2024<br>carol : 09/13/2016<br>mgross : 03/19/2004<br>mgross : 3/18/2004<br>jlewis : 7/30/1999<br>terry : 7/21/1999<br>carol : 2/26/1999<br>terry : 2/18/1999<br>terry : 12/10/1996<br>terry : 12/10/1996<br>terry : 11/13/1996<br>jason : 7/19/1994<br>mimadm : 3/12/1994<br>carol : 12/17/1993<br>carol : 11/10/1993<br>supermim : 3/17/1992<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 278740
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<h3>
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<span class="mim-font">
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE
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</h3>
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<span class="mim-font">
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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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XP, GROUP E<br />
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XERODERMA PIGMENTOSUM V; XP5
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 56048001;
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<strong>ORPHA:</strong> 910;
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<strong>DO:</strong> 0110846;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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</tr>
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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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11p11.2
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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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Xeroderma pigmentosum, group E, DDB-negative subtype
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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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278740
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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 recessive
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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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DDB2
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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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600811
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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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<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 xeroderma pigmentosum complementation group E (XPE) is caused by homozygous mutation in the DDB2 gene (600811) on chromosome 11p11.</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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<p>Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to sunlight, a high frequency of cutaneous malignancies, and defective repair of ultraviolet (UV)-induced pyrimidine dimers in the DNA (summary by Kondo et al., 1988). </p><p>For general phenotypic information on xeroderma pigmentosum, see 278700.</p>
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<strong>Clinical Features</strong>
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<p>Kondo et al. (1988) studied 3 Japanese patients, aged 50, 42, and 41 years, with mild XP symptoms and no neurologic abnormalities. Two had developed basal cell carcinomas at ages 46 and 41 years. </p><p>Chu and Chang (1988) studied cells from 2 second-cousin patients with group E xeroderma pigmentosum who had a skin disease less severe than that seen in patients of several other complementation groups (de Weerd-Kastelein et al., 1974). Using an extension of the gel electrophoresis binding assay, Chu and Chang (1988) identified at least 1 nuclear factor that binds to DNA damaged by ultraviolet radiation or the antitumor drug cisplatin, but is notably absent in group E cells. The defect was not the result of a failure of protein transport to the nucleus since binding activity was absent in both the nuclear and cytoplasmic extracts. The nuclear factor was normally present in cells from groups A, B, C, D, F, G, and H. The absence of specific binding activity for damaged DNA in group E cells could be corrected by the addition of extracts from any 1 of these other groups, thus ruling out the possibility that group E cells contain a factor that inhibits binding activity. </p><p>Keeney et al. (1993) purified to near homogeneity from HeLa cells a DNA damage-binding protein (DDB1; 600045) implicated in xeroderma pigmentosum E. The protein was abundant and had a native molecular weight of about 160,000 as estimated by gel filtration and glycerol gradient sedimentation. DNA damage binding activity copurified with polypeptides of 124 and 41 kD. It appeared that the 2 polypeptides were subunits of a heterodimeric protein. Keeney et al. (1994) injected purified human DDB protein into XPE cells and showed that DNA repair was stimulated to normal levels in those strains that lacked the DDB activity but not in cells from other xeroderma pigmentosum groups or in the subset of XPE cells that contain the activity. These results provided direct evidence that defective DDB activity causes the repair defect in a subset of XPE patients, which in turn establishes a role for this activity in nucleotide-excision repair in vivo. Thus, there appear to be 2 types of xeroderma pigmentosum group E: a DDB-positive form and a DDB-negative form. </p>
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<strong>Molecular Genetics</strong>
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<p>Nichols et al. (1996) identified mutations in the smaller component of the heterodimeric protein (p48), encoded by the DDB2 gene, in patients with the DDB-negative form of xeroderma pigmentosum group E (600811.0001-600811.0002). </p><p>Cleaver et al. (1999) recommended that XPE be defined explicitly through molecular terms, because assignment by complementation in culture had been difficult. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<li>
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<p class="mim-text-font">
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Chu, G., Chang, E.
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<strong>Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA.</strong>
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Science 242: 564-567, 1988.
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[PubMed: 3175673]
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[Full Text: https://doi.org/10.1126/science.3175673]
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<p class="mim-text-font">
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: 10447254]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6]
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<li>
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<p class="mim-text-font">
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de Weerd-Kastelein, E., Keijzer, W., Bootsma, D.
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<strong>A third complementation group in xeroderma pigmentosum.</strong>
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Mutat. Res. 22: 87-91, 1974.
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[PubMed: 4842087]
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[Full Text: https://doi.org/10.1016/0027-5107(74)90013-x]
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<li>
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<p class="mim-text-font">
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Keeney, S., Chang, G. J., Linn, S.
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<strong>Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E.</strong>
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J. Biol. Chem. 268: 21293-21300, 1993.
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[PubMed: 8407967]
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<li>
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<p class="mim-text-font">
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Keeney, S., Eker, A. P. M., Brody, T., Vermeulen, W., Bootsma, D., Hoeijmakers, J. H. J., Linn, S.
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<strong>Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein.</strong>
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Proc. Nat. Acad. Sci. 91: 4053-4056, 1994.
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[PubMed: 8171034]
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[Full Text: https://doi.org/10.1073/pnas.91.9.4053]
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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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Kondo, S., Fukuro, S., Mamada, A., Kawada, A., Satoh, Y., Fujiwara, Y.
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<strong>Assignment of three patients with xeroderma pigmentosum to complementation group E and their characteristics.</strong>
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J. Invest. Derm. 90: 152-157, 1988.
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[PubMed: 3339259]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12462130]
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<p class="mim-text-font">
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Nichols, A. F., Ong, P., Linn, S.
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<strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong>
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J. Biol. Chem. 271: 24317-24320, 1996.
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[PubMed: 8798680]
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[Full Text: https://doi.org/10.1074/jbc.271.40.24317]
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Victor A. McKusick - updated : 7/21/1999
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Victor A. McKusick : 6/4/1986
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