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<title>
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Entry
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- #620343 - BASAL CELL NEVUS SYNDROME 2; BCNS2
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- OMIM
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<span class="h4">#620343</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS109400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(BASAL CELL NEVUS SYNDROME) OR (SUFU)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=620343[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 style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070366" 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/620343" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div 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>DO:</strong> 0070366<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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620343
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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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BASAL CELL NEVUS SYNDROME 2; BCNS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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NEVOID BASAL CELL CARCINOMA SYNDROME 2; NBCCS2
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/10/521?start=-3&limit=10&highlight=521">
|
|
10q24.32
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Basal cell nevus syndrome 2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/620343"> 620343 </a>
|
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</span>
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</td>
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<td>
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<a href="/entry/607035"> 607035 </a>
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Basal cell nevus syndrome
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- <a href="/phenotypicSeries/PS109400">PS109400</a>
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- 2 Entries
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<a href="/entry/109400"> Basal cell nevus syndrome 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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<a href="/geneMap/10/521?start=-3&limit=10&highlight=521"> 10q24.32 </a>
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<a href="/entry/620343"> Basal cell nevus syndrome 2 </a>
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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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<a href="/entry/607035"> SUFU </a>
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<a href="/entry/607035"> 607035 </a>
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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 basal cell nevus syndrome-2 (BCNS2) is caused by heterozygous mutation in the SUFU gene (<a href="/entry/607035">607035</a>) on chromosome 10q24.</p>
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<p>The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by <a href="#2" class="mim-tip-reference" title="Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O. <strong>Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)</strong> Am. J. Med. Genet. 109: 74-76, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11932998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11932998</a>] [<a href="https://doi.org/10.1002/ajmg.10301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11932998">Koch et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of BCNS, see BCNS1 (<a href="/entry/109400">109400</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G. <strong>Identification of a SUFU germline mutation in a family with Gorlin syndrome.</strong> Am. J. Med. Genet. 149A: 1539-1543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533801</a>] [<a href="https://doi.org/10.1002/ajmg.a.32944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533801">Pastorino et al. (2009)</a> reported a family exhibiting atypical signs and symptoms of Gorlin syndrome in which the 4.5-year-old proband had palmar and plantar pits, macrocrania, and medulloblastoma, and his 37-year-old father had plantar pits, calcification of the falx and macrocrania. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Alvarez-Salafranca, M., Garcia-Garcia, M., Montes-Torres, A., Rivera-Fuertes, I., Lopez-Gimenez, M. T., Ara, M. <strong>SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.</strong> Australas. J. Derm. 64: 249-254, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36825822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36825822</a>] [<a href="https://doi.org/10.1111/ajd.14014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36825822">Alvarez-Salafranca et al. (2023)</a> reported a 52-year-old proband and her 80-year-old mother with basal cell nevus syndrome. The daughter (patient 1) presented with papules in her nasolabial folds, palmar pits, and a papule on the dorsum of one of her hands. Histology of one of the papules was consistent with a fibroepithelioma of Pinkus. Subsequently, she had several basal cell carcinomas, a glomus tumor, a cutaneous neurofibroma, and 2 angiofibromas. She had migraine headaches and balance problems, and a CT scan demonstrated sagittal and parasagittal dural calcifications. Her mother (patient 2) had numerous papules on her face, 2 of which were shown to be infiltrative basal cell carcinomas, and palmar pits. Subsequently, she had additional nodular basal cell carcinomas and an infiltrative basal cell carcinoma of her face and scalp. She had dizziness, and a brain MRI demonstrated 2 meningiomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36825822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of basal cell nevus syndrome-2 in the family reported by <a href="#3" class="mim-tip-reference" title="Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G. <strong>Identification of a SUFU germline mutation in a family with Gorlin syndrome.</strong> Am. J. Med. Genet. 149A: 1539-1543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533801</a>] [<a href="https://doi.org/10.1002/ajmg.a.32944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533801">Pastorino et al. (2009)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a proband and his father who exhibited atypical signs and symptoms of Gorlin syndrome, <a href="#3" class="mim-tip-reference" title="Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G. <strong>Identification of a SUFU germline mutation in a family with Gorlin syndrome.</strong> Am. J. Med. Genet. 149A: 1539-1543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533801</a>] [<a href="https://doi.org/10.1002/ajmg.a.32944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533801">Pastorino et al. (2009)</a> analyzed the PTCH1 gene (<a href="/entry/601309">601309</a>) but found no mutations. Analysis of the SUFU gene, which, like PTCH1 and PTCH2 (<a href="/entry/603673">603673</a>), is a component of the SHH (<a href="/entry/600725">600725</a>) signaling pathway, revealed a splice site mutation (<a href="/entry/607035#0003">607035.0003</a>) in the proband and his father. The clinically unaffected paternal grandparents were negative for the mutation, suggesting that it arose de novo in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By next-generation sequencing in a mother and daughter with basal cell nevus syndrome, <a href="#1" class="mim-tip-reference" title="Alvarez-Salafranca, M., Garcia-Garcia, M., Montes-Torres, A., Rivera-Fuertes, I., Lopez-Gimenez, M. T., Ara, M. <strong>SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.</strong> Australas. J. Derm. 64: 249-254, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36825822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36825822</a>] [<a href="https://doi.org/10.1111/ajd.14014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36825822">Alvarez-Salafranca et al. (2023)</a> identified a heterozygous 1-bp deletion in the SUFU gene (c.71del; <a href="/entry/607035#0005">607035.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36825822" 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 id="Alvarez-Salafranca2023" class="mim-anchor"></a>
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Alvarez-Salafranca, M., Garcia-Garcia, M., Montes-Torres, A., Rivera-Fuertes, I., Lopez-Gimenez, M. T., Ara, M.
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<strong>SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.</strong>
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Australas. J. Derm. 64: 249-254, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36825822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36825822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36825822" 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/ajd.14014" target="_blank">Full Text</a>]
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Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O.
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<strong>Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)</strong>
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Am. J. Med. Genet. 109: 74-76, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11932998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11932998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.10301" target="_blank">Full Text</a>]
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Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G.
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<strong>Identification of a SUFU germline mutation in a family with Gorlin syndrome.</strong>
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Am. J. Med. Genet. 149A: 1539-1543, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32944" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 05/17/2023
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Ada Hamosh : 04/21/2023
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joanna : 01/01/2024
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carol : 07/28/2023<br>carol : 05/17/2023<br>carol : 04/24/2023<br>carol : 04/21/2023
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<strong>#</strong> 620343
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BASAL CELL NEVUS SYNDROME 2; BCNS2
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NEVOID BASAL CELL CARCINOMA SYNDROME 2; NBCCS2
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<strong>DO:</strong> 0070366;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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10q24.32
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Basal cell nevus syndrome 2
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<span class="mim-font">
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620343
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<span class="mim-font">
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3
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SUFU
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607035
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<p>A number sign (#) is used with this entry because of evidence that basal cell nevus syndrome-2 (BCNS2) is caused by heterozygous mutation in the SUFU gene (607035) on chromosome 10q24.</p>
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<strong>Description</strong>
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<p>The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). </p><p>For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).</p>
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<strong>Clinical Features</strong>
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<p>Pastorino et al. (2009) reported a family exhibiting atypical signs and symptoms of Gorlin syndrome in which the 4.5-year-old proband had palmar and plantar pits, macrocrania, and medulloblastoma, and his 37-year-old father had plantar pits, calcification of the falx and macrocrania. </p><p>Alvarez-Salafranca et al. (2023) reported a 52-year-old proband and her 80-year-old mother with basal cell nevus syndrome. The daughter (patient 1) presented with papules in her nasolabial folds, palmar pits, and a papule on the dorsum of one of her hands. Histology of one of the papules was consistent with a fibroepithelioma of Pinkus. Subsequently, she had several basal cell carcinomas, a glomus tumor, a cutaneous neurofibroma, and 2 angiofibromas. She had migraine headaches and balance problems, and a CT scan demonstrated sagittal and parasagittal dural calcifications. Her mother (patient 2) had numerous papules on her face, 2 of which were shown to be infiltrative basal cell carcinomas, and palmar pits. Subsequently, she had additional nodular basal cell carcinomas and an infiltrative basal cell carcinoma of her face and scalp. She had dizziness, and a brain MRI demonstrated 2 meningiomas. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of basal cell nevus syndrome-2 in the family reported by Pastorino et al. (2009) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a proband and his father who exhibited atypical signs and symptoms of Gorlin syndrome, Pastorino et al. (2009) analyzed the PTCH1 gene (601309) but found no mutations. Analysis of the SUFU gene, which, like PTCH1 and PTCH2 (603673), is a component of the SHH (600725) signaling pathway, revealed a splice site mutation (607035.0003) in the proband and his father. The clinically unaffected paternal grandparents were negative for the mutation, suggesting that it arose de novo in the father. </p><p>By next-generation sequencing in a mother and daughter with basal cell nevus syndrome, Alvarez-Salafranca et al. (2023) identified a heterozygous 1-bp deletion in the SUFU gene (c.71del; 607035.0005). </p>
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<strong>REFERENCES</strong>
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Alvarez-Salafranca, M., Garcia-Garcia, M., Montes-Torres, A., Rivera-Fuertes, I., Lopez-Gimenez, M. T., Ara, M.
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<strong>SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.</strong>
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Australas. J. Derm. 64: 249-254, 2023.
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[PubMed: 36825822]
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[Full Text: https://doi.org/10.1111/ajd.14014]
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Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O.
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<strong>Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)</strong>
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Am. J. Med. Genet. 109: 74-76, 2002.
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[PubMed: 11932998]
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[Full Text: https://doi.org/10.1002/ajmg.10301]
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Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G.
|
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<strong>Identification of a SUFU germline mutation in a family with Gorlin syndrome.</strong>
|
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Am. J. Med. Genet. 149A: 1539-1543, 2009.
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[PubMed: 19533801]
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[Full Text: https://doi.org/10.1002/ajmg.a.32944]
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</p>
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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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Hilary J. Vernon - updated : 05/17/2023
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