2909 lines
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Entry
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- #278780 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
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- OMIM
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<p>
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<span class="h4">#278780</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/278780"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<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 G" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1649&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">COFS syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=638&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18903&Typ=Pat" title="Xeroderma pigmentosum-Cockayne syndrome complex" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Xeroderma pigmentosum-Cock… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3253&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Xeroderma pigmentosum </a></div>
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</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/7565" 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=278780[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">COFS syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cockayne syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=220295" title="Xeroderma pigmentosum-Cockayne syndrome complex" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Xeroderma pigmentosum-Cock…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Xeroderma pigmentosum</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110849" 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/278780" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110849" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:278780" 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 href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 36454001<br />
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<strong>ORPHA:</strong> 1466, 191, 220295, 910<br />
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<strong>DO:</strong> 0110849<br />
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">ICD+</a>
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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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278780
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
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<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
XP, GROUP G; XPGC<br />
|
|
XERODERMA PIGMENTOSUM VII; XP7
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/298?start=-3&limit=10&highlight=298">
|
|
13q33.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xeroderma pigmentosum, group G
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/278780"> 278780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ERCC5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133530"> 133530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/298?start=-3&limit=10&highlight=298">
|
|
13q33.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xeroderma pigmentosum, group G/Cockayne syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/278780"> 278780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ERCC5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133530"> 133530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/278780" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/278780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/278780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor growth (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cataracts (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Microphthalmia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 /> -
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Abnormal sensitivity to UVB wavelengths by radiation monochromator skin testing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279492</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Developmental deterioration (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230998</a>]</span><br /> -
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Tremor (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
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Ataxia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Spasticity (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Some patients have no neurologic abnormalities<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the ERCC excision repair 5, endonuclease gene (ERCC5, <a href="/entry/133530#0001">133530.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that xeroderma pigmentosum complementation group G (XPG) and XPG/Cockayne syndrome are caused by homozygous or compound heterozygous mutation in the ERCC5 gene (<a href="/entry/133530">133530</a>) on chromosome 13q33.</p><p>Homozygous mutation in the ERCC5 gene can also cause cerebrooculofacioskeletal syndrome-3 (COFS3; <a href="/entry/616570">616570</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>For a general description of xeroderma pigmentosum, see XPA (<a href="/entry/278700">278700</a>), and of Cockayne syndrome, see CSA (<a href="/entry/216400">216400</a>). Complementation group G has one of the smallest series of cases (<a href="#1" class="mim-tip-reference" title="Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N. <strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong> Carcinogenesis 1: 745-751, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>] [<a href="https://doi.org/10.1093/carcin/1.9.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11219864">Arlett et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11219864" 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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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Cheesbrough, M. J. <strong>Xeroderma pigmentosum--a unique variant with neurologic involvement.</strong> Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>]" pmid="698095">Cheesbrough (1978)</a> and <a href="#5" class="mim-tip-reference" title="Keijzer, W., Jaspers, N. G., Abrahams, P. J., Taylor, A. M., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D., Bootsma, D. <strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong> Mutat. Res. 62: 183-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>] [<a href="https://doi.org/10.1016/0027-5107(79)90231-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="492197">Keijzer et al. (1979)</a> reported the first individual with XP complementation group G. She was noted to have facial photosensitive erythema at age 3 months and blistering on exposed skin at 5 months. She was normal until age 11 years, when she showed unstable gait and began to show mental deterioration. She reached age 17 years with no keratoses or skin tumors. Physical examination showed microcephaly with mental retardation, intention tremor of the arms, ataxia, moderate spasticity, wide-based gait, and bilateral pes cavus. Cells derived from the patient exhibited a low level of excision repair (2%) and impaired post-replication repair characteristic of XP. <a href="#1" class="mim-tip-reference" title="Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N. <strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong> Carcinogenesis 1: 745-751, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>] [<a href="https://doi.org/10.1093/carcin/1.9.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11219864">Arlett et al. (1980)</a> reported a second individual with XPG who was over 7 years old. These patients were reported before the relationship between xeroderma pigmentosum group G and Cockayne syndrome was appreciated (<a href="#6" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=492197+11841555+11219864+698095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Norris, P. G., Hawk, J. L. M., Avery, J. A., Giannelli, F. <strong>Xeroderma pigmentosum complementation group G--report of two cases.</strong> Brit. J. Derm. 116: 861-866, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3620347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3620347</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04906.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3620347">Norris et al. (1987)</a> described a brother and sister, aged 14 and 12 years, respectively, with XP group G. Both patients manifested only mild cutaneous changes, with no UV-induced skin tumors, although abnormal sensitivity to UVB wavelengths was demonstrated by radiation monochromator skin testing. Physical and neurologic development was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3620347" 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="#10" class="mim-tip-reference" title="Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J. <strong>Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.</strong> Am. J. Hum. Genet. 53: 185-192, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317483</a>]" pmid="8317483">Vermeulen et al. (1993)</a> reported genetic studies of 2 unrelated, severely affected patients with clinical characteristics of Cockayne syndrome but with a biochemical defect typical of xeroderma pigmentosum. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, they assigned these 2 patients to XP complementation group G. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8317483" 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="#11" class="mim-tip-reference" title="Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G. <strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong> Pediat. Res. 49: 407-412, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>] [<a href="https://doi.org/10.1203/00006450-200103000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11228268">Zafeiriou et al. (2001)</a> described a premature, small for gestational age infant girl with microphthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave rise to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient was assigned to the XPG group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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="#6" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> found that the first 2 patients reported with XPG (<a href="#2" class="mim-tip-reference" title="Cheesbrough, M. J. <strong>Xeroderma pigmentosum--a unique variant with neurologic involvement.</strong> Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>]" pmid="698095">Cheesbrough, 1978</a>; <a href="#5" class="mim-tip-reference" title="Keijzer, W., Jaspers, N. G., Abrahams, P. J., Taylor, A. M., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D., Bootsma, D. <strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong> Mutat. Res. 62: 183-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>] [<a href="https://doi.org/10.1016/0027-5107(79)90231-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="492197">Keijzer et al., 1979</a>; <a href="#1" class="mim-tip-reference" title="Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N. <strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong> Carcinogenesis 1: 745-751, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>] [<a href="https://doi.org/10.1093/carcin/1.9.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11219864">Arlett et al., 1980</a>) produced XPG proteins with severely impaired endonuclease activity. Both patients were compound heterozygous for truncating mutations in the ERCC5 gene (<a href="/entry/133530#0009">133530.0009</a>, <a href="/entry/133530#0010">133530.0010</a>) and another mutation (<a href="/entry/133530#0008">133530.0008</a> and <a href="/entry/133530#0011">133530.0011</a>, respectively). The mutant cells, unlike those from xeroderma pigmentosum group G/Cockayne syndrome patients, were capable of limited transcription-coupled repair of oxidative lesions. <a href="#6" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> suggested that the residual ERCC5 activity in these patients was responsible for the absence of severe early-onset Cockayne syndrome symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=492197+11841555+11219864+698095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with XPG/CS, <a href="#11" class="mim-tip-reference" title="Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G. <strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong> Pediat. Res. 49: 407-412, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>] [<a href="https://doi.org/10.1203/00006450-200103000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11228268">Zafeiriou et al. (2001)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene (<a href="/entry/133530#0006">133530.0006</a>; <a href="/entry/133530#0007">133530.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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>Some patients with a combined phenotype of xeroderma pigmentosum and Cockayne syndrome fall into complementation group G. <a href="#8" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> demonstrated that patients with the combined phenotype XPG/CS have mutations that would produce severely truncated XPG proteins. In contrast, 2 sib XPG patients without CS were able to make full-length XPG, but had a missense mutation that inactivated its function in nucleotide excision repair (<a href="/entry/133530#0002">133530.0002</a>). These results suggested that XPG/CS mutations abolish interactions required for a second important XPG protein function and that it is the loss of the second function that leads to the Cockayne syndrome clinical phenotype. (Note that Figure 6 of the report of <a href="#8" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> was retracted under a Voluntary Exclusion Agreement between one of the authors, Steven A. Leaden, and the US Department of Health and Human Services. The other authors stated that the other findings and conclusions of the article were not challenged by retraction of Figure 6.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M. <strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong> Hum. Mutat. 34: 481-489, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>] [<a href="https://doi.org/10.1002/humu.22259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255472">Soltys et al. (2013)</a> reported 2 Brazilian sibs, born of unrelated parents, with a mild form of XPG due to compound heterozygosity for 2 missense mutations in the ERCC5 gene (<a href="/entry/133530#0014">133530.0014</a> and <a href="/entry/133530#0015">133530.0015</a>). Both patients developed photosensitivity with mild skin lesions first apparent in infancy, but had no history of skin cancer or skin cancer precursor lesions up to ages 22 and 17 years, respectively. Patient cells showed a strong DNA repair defect in response to UV light, but not in response to oxidative stress. In vitro functional expression studies showed that both mutant proteins were able to partially restore activity in cells lacking ERCC5 in response to UV light, but not as well as the wildtype protein. In contrast, both mutant proteins showed activity comparable to wildtype in response to oxidative stress. <a href="#9" class="mim-tip-reference" title="Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M. <strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong> Hum. Mutat. 34: 481-489, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>] [<a href="https://doi.org/10.1002/humu.22259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255472">Soltys et al. (2013)</a> suggested that more severe ERCC5 defects that also impair the response to oxidative stress-induced injury, usually truncating mutations (see, e.g., <a href="/entry/133530#0003">133530.0003</a>), are associated with the more severe phenotype observed in Cockayne syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255472" 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>Complementation tests by cell fusion demonstrated that the NER syndromes are genetically heterogeneous and comprise 10 or more complementation groups: 7 in xeroderma pigmentosum, 2 in Cockayne syndrome, and 2 in TTD (<a href="#3" class="mim-tip-reference" title="Hoeijmakers, J. H. J. <strong>Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies.</strong> Europ. J. Cancer 30A: 1912-1921, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7734202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7734202</a>] [<a href="https://doi.org/10.1016/0959-8049(94)00381-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7734202">Hoeijmakers, 1994</a>). The finding of additional patients combining features of xeroderma pigmentosum and Cockayne syndrome within complementation groups XPB (<a href="/entry/610651">610651</a>), XPD (<a href="/entry/278730">278730</a>), and XPG indicated that there is considerable clinical heterogeneity with phenotypic overlap within the subsets of complementation groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7734202" 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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<a href="#Ichihashi1985" class="mim-tip-reference" title="Ichihashi, M., Fujiwara, Y., Uehara, Y., Matsumoto, A. <strong>A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.</strong> J. Invest. Derm. 85: 284-287, 1985.">Ichihashi et al. (1985)</a>
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<a id="Arlett1980" class="mim-anchor"></a>
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Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N.
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<strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong>
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Carcinogenesis 1: 745-751, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11219864" 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/10.1093/carcin/1.9.745" target="_blank">Full Text</a>]
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Cheesbrough, M. J.
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<strong>Xeroderma pigmentosum--a unique variant with neurologic involvement.</strong>
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Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=698095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hoeijmakers, J. H. J.
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<strong>Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies.</strong>
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Europ. J. Cancer 30A: 1912-1921, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7734202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7734202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7734202" 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/10.1016/0959-8049(94)00381-e" target="_blank">Full Text</a>]
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<a id="Ichihashi1985" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ichihashi, M., Fujiwara, Y., Uehara, Y., Matsumoto, A.
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<strong>A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.</strong>
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J. Invest. Derm. 85: 284-287, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4031543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4031543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4031543" 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.ep12276776" target="_blank">Full Text</a>]
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<a id="Keijzer1979" class="mim-anchor"></a>
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Keijzer, W., Jaspers, N. G., Abrahams, P. J., Taylor, A. M., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D., Bootsma, D.
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<strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong>
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Mutat. Res. 62: 183-190, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=492197" 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(79)90231-8" target="_blank">Full Text</a>]
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Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G.
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<strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong>
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J. Invest. Derm. 118: 344-351, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11841555" 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/10.1046/j.0022-202x.2001.01673.x" target="_blank">Full Text</a>]
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<a id="Norris1987" class="mim-anchor"></a>
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Norris, P. G., Hawk, J. L. M., Avery, J. A., Giannelli, F.
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<strong>Xeroderma pigmentosum complementation group G--report of two cases.</strong>
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Brit. J. Derm. 116: 861-866, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3620347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3620347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3620347" 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.1365-2133.1987.tb04906.x" target="_blank">Full Text</a>]
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<a id="Nouspikel1997" class="mim-anchor"></a>
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Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G.
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<strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong>
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Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096355" 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.94.7.3116" target="_blank">Full Text</a>]
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<a id="Soltys2013" class="mim-anchor"></a>
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Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M.
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<strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong>
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Hum. Mutat. 34: 481-489, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255472" 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/humu.22259" target="_blank">Full Text</a>]
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Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J.
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<strong>Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.</strong>
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Am. J. Hum. Genet. 53: 185-192, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8317483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G.
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<strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong>
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Pediat. Res. 49: 407-412, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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/10.1203/00006450-200103000-00016" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 4/2/2013
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Cassandra L. Kniffin - updated : 7/6/2007<br>Gary A. Bellus - updated : 4/25/2003<br>Victor A. McKusick - updated : 5/13/1997
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Victor A. McKusick : 6/4/1986
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carol : 03/18/2020<br>carol : 09/11/2017<br>carol : 09/28/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 5/28/2015<br>carol : 2/9/2015<br>alopez : 4/5/2013<br>ckniffin : 4/2/2013<br>alopez : 11/13/2012<br>ckniffin : 8/29/2007<br>carol : 7/16/2007<br>ckniffin : 7/16/2007<br>ckniffin : 7/6/2007<br>alopez : 4/25/2003<br>dkim : 10/16/1998<br>jenny : 5/13/1997<br>terry : 5/5/1997<br>mimadm : 3/12/1994<br>carol : 12/17/1993<br>carol : 6/8/1993<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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<span class="mim-font">
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<strong>#</strong> 278780
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<h3>
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
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XP, GROUP G; XPGC<br />
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XERODERMA PIGMENTOSUM VII; XP7
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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<div>
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<span class="h3 mim-font">
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XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 36454001;
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<strong>ORPHA:</strong> 1466, 191, 220295, 910;
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<strong>DO:</strong> 0110849;
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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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13q33.1
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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 G
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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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278780
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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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</td>
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<td>
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<span class="mim-font">
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ERCC5
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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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133530
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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13q33.1
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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 G/Cockayne syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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278780
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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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ERCC5
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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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133530
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that xeroderma pigmentosum complementation group G (XPG) and XPG/Cockayne syndrome are caused by homozygous or compound heterozygous mutation in the ERCC5 gene (133530) on chromosome 13q33.</p><p>Homozygous mutation in the ERCC5 gene can also cause cerebrooculofacioskeletal syndrome-3 (COFS3; 616570).</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>For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett 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>Cheesbrough (1978) and Keijzer et al. (1979) reported the first individual with XP complementation group G. She was noted to have facial photosensitive erythema at age 3 months and blistering on exposed skin at 5 months. She was normal until age 11 years, when she showed unstable gait and began to show mental deterioration. She reached age 17 years with no keratoses or skin tumors. Physical examination showed microcephaly with mental retardation, intention tremor of the arms, ataxia, moderate spasticity, wide-based gait, and bilateral pes cavus. Cells derived from the patient exhibited a low level of excision repair (2%) and impaired post-replication repair characteristic of XP. Arlett et al. (1980) reported a second individual with XPG who was over 7 years old. These patients were reported before the relationship between xeroderma pigmentosum group G and Cockayne syndrome was appreciated (Lalle et al., 2002). </p><p>Norris et al. (1987) described a brother and sister, aged 14 and 12 years, respectively, with XP group G. Both patients manifested only mild cutaneous changes, with no UV-induced skin tumors, although abnormal sensitivity to UVB wavelengths was demonstrated by radiation monochromator skin testing. Physical and neurologic development was normal. </p><p>Vermeulen et al. (1993) reported genetic studies of 2 unrelated, severely affected patients with clinical characteristics of Cockayne syndrome but with a biochemical defect typical of xeroderma pigmentosum. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, they assigned these 2 patients to XP complementation group G. </p><p>Zafeiriou et al. (2001) described a premature, small for gestational age infant girl with microphthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave rise to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient was assigned to the XPG group. </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>Molecular Genetics</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>Lalle et al. (2002) found that the first 2 patients reported with XPG (Cheesbrough, 1978; Keijzer et al., 1979; Arlett et al., 1980) produced XPG proteins with severely impaired endonuclease activity. Both patients were compound heterozygous for truncating mutations in the ERCC5 gene (133530.0009, 133530.0010) and another mutation (133530.0008 and 133530.0011, respectively). The mutant cells, unlike those from xeroderma pigmentosum group G/Cockayne syndrome patients, were capable of limited transcription-coupled repair of oxidative lesions. Lalle et al. (2002) suggested that the residual ERCC5 activity in these patients was responsible for the absence of severe early-onset Cockayne syndrome symptoms. </p><p>In a patient with XPG/CS, Zafeiriou et al. (2001) identified compound heterozygosity for 2 mutations in the ERCC5 gene (133530.0006; 133530.0007). </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>Genotype/Phenotype Correlations</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>Some patients with a combined phenotype of xeroderma pigmentosum and Cockayne syndrome fall into complementation group G. Nouspikel et al. (1997) demonstrated that patients with the combined phenotype XPG/CS have mutations that would produce severely truncated XPG proteins. In contrast, 2 sib XPG patients without CS were able to make full-length XPG, but had a missense mutation that inactivated its function in nucleotide excision repair (133530.0002). These results suggested that XPG/CS mutations abolish interactions required for a second important XPG protein function and that it is the loss of the second function that leads to the Cockayne syndrome clinical phenotype. (Note that Figure 6 of the report of Nouspikel et al. (1997) was retracted under a Voluntary Exclusion Agreement between one of the authors, Steven A. Leaden, and the US Department of Health and Human Services. The other authors stated that the other findings and conclusions of the article were not challenged by retraction of Figure 6.) </p><p>Soltys et al. (2013) reported 2 Brazilian sibs, born of unrelated parents, with a mild form of XPG due to compound heterozygosity for 2 missense mutations in the ERCC5 gene (133530.0014 and 133530.0015). Both patients developed photosensitivity with mild skin lesions first apparent in infancy, but had no history of skin cancer or skin cancer precursor lesions up to ages 22 and 17 years, respectively. Patient cells showed a strong DNA repair defect in response to UV light, but not in response to oxidative stress. In vitro functional expression studies showed that both mutant proteins were able to partially restore activity in cells lacking ERCC5 in response to UV light, but not as well as the wildtype protein. In contrast, both mutant proteins showed activity comparable to wildtype in response to oxidative stress. Soltys et al. (2013) suggested that more severe ERCC5 defects that also impair the response to oxidative stress-induced injury, usually truncating mutations (see, e.g., 133530.0003), are associated with the more severe phenotype observed in Cockayne syndrome. </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>History</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>Complementation tests by cell fusion demonstrated that the NER syndromes are genetically heterogeneous and comprise 10 or more complementation groups: 7 in xeroderma pigmentosum, 2 in Cockayne syndrome, and 2 in TTD (Hoeijmakers, 1994). The finding of additional patients combining features of xeroderma pigmentosum and Cockayne syndrome within complementation groups XPB (610651), XPD (278730), and XPG indicated that there is considerable clinical heterogeneity with phenotypic overlap within the subsets of complementation groups. </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>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
|
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<span class="mim-text-font">
|
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Ichihashi et al. (1985)
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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>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N.
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<strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong>
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Carcinogenesis 1: 745-751, 1980.
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[PubMed: 11219864]
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[Full Text: https://doi.org/10.1093/carcin/1.9.745]
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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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Cheesbrough, M. J.
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<strong>Xeroderma pigmentosum--a unique variant with neurologic involvement.</strong>
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Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.
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[PubMed: 698095]
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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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Hoeijmakers, J. H. J.
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<strong>Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies.</strong>
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Europ. J. Cancer 30A: 1912-1921, 1994.
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[PubMed: 7734202]
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[Full Text: https://doi.org/10.1016/0959-8049(94)00381-e]
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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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Ichihashi, M., Fujiwara, Y., Uehara, Y., Matsumoto, A.
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<strong>A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.</strong>
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J. Invest. Derm. 85: 284-287, 1985.
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[PubMed: 4031543]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12276776]
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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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Keijzer, W., Jaspers, N. G., Abrahams, P. J., Taylor, A. M., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D., Bootsma, D.
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<strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong>
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Mutat. Res. 62: 183-190, 1979.
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[PubMed: 492197]
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[Full Text: https://doi.org/10.1016/0027-5107(79)90231-8]
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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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Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G.
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<strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong>
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J. Invest. Derm. 118: 344-351, 2002.
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[PubMed: 11841555]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01673.x]
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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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Norris, P. G., Hawk, J. L. M., Avery, J. A., Giannelli, F.
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<strong>Xeroderma pigmentosum complementation group G--report of two cases.</strong>
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Brit. J. Derm. 116: 861-866, 1987.
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[PubMed: 3620347]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1987.tb04906.x]
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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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Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G.
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<strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).
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[PubMed: 9096355]
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[Full Text: https://doi.org/10.1073/pnas.94.7.3116]
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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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Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M.
|
|
<strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong>
|
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Hum. Mutat. 34: 481-489, 2013.
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[PubMed: 23255472]
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[Full Text: https://doi.org/10.1002/humu.22259]
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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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Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J.
|
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<strong>Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.</strong>
|
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Am. J. Hum. Genet. 53: 185-192, 1993.
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[PubMed: 8317483]
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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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Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G.
|
|
<strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong>
|
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Pediat. Res. 49: 407-412, 2001.
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[PubMed: 11228268]
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[Full Text: https://doi.org/10.1203/00006450-200103000-00016]
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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">
|
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/2/2013<br>Cassandra L. Kniffin - updated : 7/6/2007<br>Gary A. Bellus - updated : 4/25/2003<br>Victor A. McKusick - updated : 5/13/1997
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Victor A. McKusick : 6/4/1986
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alopez : 08/08/2023<br>carol : 03/18/2020<br>carol : 09/11/2017<br>carol : 09/28/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 5/28/2015<br>carol : 2/9/2015<br>alopez : 4/5/2013<br>ckniffin : 4/2/2013<br>alopez : 11/13/2012<br>ckniffin : 8/29/2007<br>carol : 7/16/2007<br>ckniffin : 7/16/2007<br>ckniffin : 7/6/2007<br>alopez : 4/25/2003<br>dkim : 10/16/1998<br>jenny : 5/13/1997<br>terry : 5/5/1997<br>mimadm : 3/12/1994<br>carol : 12/17/1993<br>carol : 6/8/1993<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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