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<title>
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Entry
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- #215300 - CHONDROSARCOMA
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10762&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1378" 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=215300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=55880" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:3371" 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/215300" 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:3371" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1163016002, 443520009<br />
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<strong>ORPHA:</strong> 55880<br />
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<strong>DO:</strong> 3371<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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215300
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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|
CHONDROSARCOMA
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/8/504?start=-3&limit=10&highlight=504">
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8q24.11
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<span class="mim-font">
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Chondrosarcoma
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<span class="mim-font">
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<a href="/entry/215300"> 215300 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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EXT1
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<span class="mim-font">
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<a href="/entry/608177"> 608177 </a>
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<li><a href="/graph/linear/215300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/215300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Chondrosarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443520009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443520009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163016002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163016002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/447792005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">447792005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3163843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3163843</a>, <a href="https://bioportal.bioontology.org/search?q=C0008479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006765</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006765</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by somatic mutation in the exostosin glycosyltransferase 1 gene (EXT1, <a href="/entry/608177#0005">608177.0005</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that chondrosarcoma may result from mutation, either constitutional or somatic, in the EXT1 gene (<a href="/entry/608177">608177</a>) on chromosome 8q24.</p>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D. <strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong> Am. J. Hum. Genet. 60: 80-86, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981950</a>]" pmid="8981950">Hecht et al. (1997)</a> reported a patient with only chondrosarcoma from a family with a history of multiple exostoses (see <a href="/entry/133700">133700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Schajowicz, F., Bessone, J. E. <strong>Chondrosarcoma in 3 brothers: a pathological and genetic study.</strong> J. Bone Joint Surg. Am. 49: 129-141, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6015756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6015756</a>]" pmid="6015756">Schajowicz and Bessone (1967)</a> described 3 brothers who, respectively, developed chondrosarcoma of the pelvic bone at 18 years, of the fibula and femur at 16 years, and of the femur at 17 years. Two brothers and a sister were living and well. Karyotypes were normal. See osteogenic sarcoma (<a href="/entry/259500">259500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6015756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mapping</strong>
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<p><strong><em>Linkage Studies</em></strong></p><p>
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In a large multigenerational family with multiple exostoses and, in 1 member, a chondrosarcoma, <a href="#2" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D. <strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong> Am. J. Hum. Genet. 60: 80-86, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981950</a>]" pmid="8981950">Hecht et al. (1997)</a> found linkage of the disease to chromosome 11 markers. Loss of marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. In further studies of constitutional and chondrosarcoma DNA from 6 unrelated individuals, 2 of whom had multiple exostoses, 1 tumor from an individual with multiple exostoses showed LOH for chromosome 8 markers in the region where the EXT1 gene maps (8q24.1), and a person with a sporadic chondrosarcoma was found to have a tumor-specific LOH and a homozygous deletion of chromosome 11 markers from the pericentric region, where the EXT2 gene maps. These findings suggested to <a href="#1" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Strong, L. C., Hansen, M. F., Blanton, S. H., Wagner, M. <strong>Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.</strong> Am. J. Hum. Genet. 56: 1125-1131, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726168</a>]" pmid="7726168">Hecht et al. (1995)</a> that EXT genes may be tumor suppressor genes and that the initiation of tumor development may follow a multistep model. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8981950+7726168" 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>Using LOH analysis of chondrosarcomas and chondroblastomas, <a href="#1" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Strong, L. C., Hansen, M. F., Blanton, S. H., Wagner, M. <strong>Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.</strong> Am. J. Hum. Genet. 56: 1125-1131, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726168</a>]" pmid="7726168">Hecht et al. (1995)</a> identified additional LOH events at loci on chromosomes 3q, 8q, 10q, and 19q. The authors reported that a sporadic chondrosarcoma demonstrated LOH for EXT1 and EXT3, whereas a second chondrosarcoma underwent LOH for EXT2 and chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In a patient (individual 6) with chondrosarcoma, <a href="#2" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D. <strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong> Am. J. Hum. Genet. 60: 80-86, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981950</a>]" pmid="8981950">Hecht et al. (1997)</a> identified an EXT1 mutation in the constitutional DNA (<a href="/entry/608177#0005">608177.0005</a>), but the tumor tissue had retained the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutations</em></strong></p><p>
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In a patient (individual 10) with somatic chondrosarcoma, <a href="#2" class="mim-tip-reference" title="Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D. <strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong> Am. J. Hum. Genet. 60: 80-86, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981950</a>]" pmid="8981950">Hecht et al. (1997)</a> identified a mutation in the tumor tissue (<a href="/entry/608177#0006">608177.0006</a>), which was not present in the constitutional DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others. <strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong> Nature Genet. 45: 923-926, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23770606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23770606</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23770606[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23770606">Tarpey et al. (2013)</a> reported comprehensive genomic analyses of 49 individuals with chondrosarcoma and identified hypermutability of the major cartilage collagen gene COL2A1 (<a href="/entry/120140">120140</a>), with insertions, deletions, and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, <a href="#4" class="mim-tip-reference" title="Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others. <strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong> Nature Genet. 45: 923-926, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23770606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23770606</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23770606[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23770606">Tarpey et al. (2013)</a> identified mutations in IDH1 (<a href="/entry/147700">147700</a>) or IDH2 (<a href="/entry/147650">147650</a>) (59%), TP53 (<a href="/entry/191170">191170</a>) (20%), the RB1 pathway (see <a href="/entry/614041">614041</a>) (33%), and Sonic hedgehog signaling (<a href="/entry/600725">600725</a>) (18%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23770606" 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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Hecht, J. T., Hogue, D., Strong, L. C., Hansen, M. F., Blanton, S. H., Wagner, M.
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<strong>Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.</strong>
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Am. J. Hum. Genet. 56: 1125-1131, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D.
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<strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong>
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Am. J. Hum. Genet. 60: 80-86, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Schajowicz, F., Bessone, J. E.
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<strong>Chondrosarcoma in 3 brothers: a pathological and genetic study.</strong>
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J. Bone Joint Surg. Am. 49: 129-141, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6015756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6015756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6015756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others.
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<strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong>
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Nature Genet. 45: 923-926, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23770606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23770606</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23770606[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23770606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2668" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 01/24/2014
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Victor A. McKusick - updated : 1/10/2003<br>Victor A. McKusick - updated : 1/24/2000<br>Victor A. McKusick - updated : 10/7/1997
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Victor A. McKusick : 6/3/1986
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carol : 07/24/2020
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alopez : 01/24/2014<br>terry : 1/14/2011<br>carol : 8/20/2008<br>ckniffin : 8/14/2008<br>ckniffin : 10/30/2003<br>tkritzer : 1/23/2003<br>tkritzer : 1/15/2003<br>terry : 1/10/2003<br>carol : 1/30/2000<br>terry : 1/24/2000<br>carol : 10/22/1999<br>mark : 10/9/1997<br>terry : 10/7/1997<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>root : 12/1/1987
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<strong>SNOMEDCT:</strong> 1163016002, 443520009;
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<strong>ORPHA:</strong> 55880;
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8q24.11
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Chondrosarcoma
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EXT1
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608177
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<p>A number sign (#) is used with this entry because of evidence that chondrosarcoma may result from mutation, either constitutional or somatic, in the EXT1 gene (608177) on chromosome 8q24.</p>
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<p>Hecht et al. (1997) reported a patient with only chondrosarcoma from a family with a history of multiple exostoses (see 133700). </p><p>Schajowicz and Bessone (1967) described 3 brothers who, respectively, developed chondrosarcoma of the pelvic bone at 18 years, of the fibula and femur at 16 years, and of the femur at 17 years. Two brothers and a sister were living and well. Karyotypes were normal. See osteogenic sarcoma (259500). </p>
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In a large multigenerational family with multiple exostoses and, in 1 member, a chondrosarcoma, Hecht et al. (1997) found linkage of the disease to chromosome 11 markers. Loss of marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. In further studies of constitutional and chondrosarcoma DNA from 6 unrelated individuals, 2 of whom had multiple exostoses, 1 tumor from an individual with multiple exostoses showed LOH for chromosome 8 markers in the region where the EXT1 gene maps (8q24.1), and a person with a sporadic chondrosarcoma was found to have a tumor-specific LOH and a homozygous deletion of chromosome 11 markers from the pericentric region, where the EXT2 gene maps. These findings suggested to Hecht et al. (1995) that EXT genes may be tumor suppressor genes and that the initiation of tumor development may follow a multistep model. </p><p>Using LOH analysis of chondrosarcomas and chondroblastomas, Hecht et al. (1995) identified additional LOH events at loci on chromosomes 3q, 8q, 10q, and 19q. The authors reported that a sporadic chondrosarcoma demonstrated LOH for EXT1 and EXT3, whereas a second chondrosarcoma underwent LOH for EXT2 and chromosome 10. </p>
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<p>In a patient (individual 6) with chondrosarcoma, Hecht et al. (1997) identified an EXT1 mutation in the constitutional DNA (608177.0005), but the tumor tissue had retained the wildtype allele. </p><p><strong><em>Somatic Mutations</em></strong></p><p>
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In a patient (individual 10) with somatic chondrosarcoma, Hecht et al. (1997) identified a mutation in the tumor tissue (608177.0006), which was not present in the constitutional DNA. </p><p>Tarpey et al. (2013) reported comprehensive genomic analyses of 49 individuals with chondrosarcoma and identified hypermutability of the major cartilage collagen gene COL2A1 (120140), with insertions, deletions, and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, Tarpey et al. (2013) identified mutations in IDH1 (147700) or IDH2 (147650) (59%), TP53 (191170) (20%), the RB1 pathway (see 614041) (33%), and Sonic hedgehog signaling (600725) (18%). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Hecht, J. T., Hogue, D., Strong, L. C., Hansen, M. F., Blanton, S. H., Wagner, M.
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<strong>Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.</strong>
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Am. J. Hum. Genet. 56: 1125-1131, 1995.
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[PubMed: 7726168]
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<li>
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Hecht, J. T., Hogue, D., Wang, Y., Blanton, S. H., Wagner, M., Strong, L. C., Raskind, W., Hansen, M. F., Wells, D.
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<strong>Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.</strong>
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Am. J. Hum. Genet. 60: 80-86, 1997.
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[PubMed: 8981950]
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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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Schajowicz, F., Bessone, J. E.
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<strong>Chondrosarcoma in 3 brothers: a pathological and genetic study.</strong>
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J. Bone Joint Surg. Am. 49: 129-141, 1967.
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[PubMed: 6015756]
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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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Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others.
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<strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong>
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Nature Genet. 45: 923-926, 2013.
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[PubMed: 23770606]
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[Full Text: https://doi.org/10.1038/ng.2668]
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Ada Hamosh - updated : 01/24/2014<br>Victor A. McKusick - updated : 1/10/2003<br>Victor A. McKusick - updated : 1/24/2000<br>Victor A. McKusick - updated : 10/7/1997
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Victor A. McKusick : 6/3/1986
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