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<title>
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Entry
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- #613013 - NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
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- OMIM
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<p>
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<span class="h4">#613013</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="#text"><strong>Text</strong></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="#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>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(NEUROBLASTOMA) OR (PHOX2B)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=548&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/8995" 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=613013[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=635" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 635<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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613013
|
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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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NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, 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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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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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</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/4/176?start=-3&limit=10&highlight=176">
|
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4p13
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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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Neuroblastoma with Hirschsprung disease
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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/613013"> 613013 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PHOX2B
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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/603851"> 603851 </a>
|
|
</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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<a href="/geneMap/4/176?start=-3&limit=10&highlight=176">
|
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4p13
|
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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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{Neuroblastoma, susceptibility to, 2}
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613013"> 613013 </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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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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PHOX2B
|
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</span>
|
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</td>
|
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to neuroblastoma-2 (NBLST2) is conferred by germline mutation in the PHOX2B gene (<a href="/entry/603851">603851</a>) on chromosome 4p13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (<a href="/entry/256700">256700</a>).</p><p>See also congenital central hypoventilation syndrome (CCHS; <a href="/entry/209880">209880</a>), which is also caused by mutation in the PHOX2B gene. Patients with CCHS have a high predisposing risk of developing a tumor of the sympathetic nervous system, as indicated by a 5 to 10% occurrence of neuroblastoma, ganglioneuroblastoma, and ganglioneuroma (<a href="#3" class="mim-tip-reference" title="Rohrer, T., Trachsel, D., Engelcke, G., Hammer, J. <strong>Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.</strong> Pediat. Pulmonol. 33: 71-76, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11747263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11747263</a>] [<a href="https://doi.org/10.1002/ppul.10031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11747263">Rohrer et al., 2002</a>; <a href="#1" class="mim-tip-reference" title="Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simmoneau, M., Vekemans, M., Munnich, A., Gaultier, C., Lyonnet, S. <strong>Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.</strong> Nature Genet. 33: 459-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12640453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12640453</a>] [<a href="https://doi.org/10.1038/ng1130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12640453">Amiel et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12640453+11747263" 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="#4" class="mim-tip-reference" title="Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A., Lyonnet, S., Delattre, O., Amiel, J. <strong>Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.</strong> Am. J. Hum. Genet. 74: 761-764, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024693</a>] [<a href="https://doi.org/10.1086/383253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024693">Trochet et al. (2004)</a> reported a family with neuroblastoma. The proband had a multifocal abdominal ganglioneuroma surgically removed at age 10 years. His younger brother presented with an abdominal neuroblastoma at age 6 years, which was surgically removed, and experienced local recurrences 18 months and 30 months later. The father had a ganglioneuroma of the adrenal medulla, which was surgically removed at age 44 years. An unrelated patient had a diagnosis of Hirschsprung disease (HSCR1; <a href="/entry/142623">142623</a>) in the neonatal period and was treated surgically with a good result. Multifocal neuroblastoma tumors, both thoracic and abdominal, were diagnosed at age 9 months and were surgically removed. A 10-year follow-up showed no recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="McConville, C., Reid, S., Baskcomb, L., Douglas, J., Rahman, N. <strong>PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.</strong> Am. J. Med. Genet. 140A: 1297-1301, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16691592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16691592</a>] [<a href="https://doi.org/10.1002/ajmg.a.31278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16691592">McConville et al. (2006)</a> reported a family with neuroblastoma. The index case, from whom no DNA was available, died at age 5 years with metastatic neuroblastoma and ganglioneuroblastoma. Her father and paternal grandmother both had adult-onset ganglioneuroblastoma. Another paternal relative, from whom DNA was not available, died at age 14 years from ganglioneuroblastoma. None of the family members had Hirschsprung disease or any features of autonomic dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16691592" 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="#4" class="mim-tip-reference" title="Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A., Lyonnet, S., Delattre, O., Amiel, J. <strong>Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.</strong> Am. J. Hum. Genet. 74: 761-764, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024693</a>] [<a href="https://doi.org/10.1086/383253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024693">Trochet et al. (2004)</a> identified germline mutations in the PHOX2B gene in both a familial case of neuroblastoma (R100L; <a href="/entry/603851#0005">603851.0005</a>) and in a patient with sporadic neuroblastoma associated with Hirschsprung disease (R141G; <a href="/entry/603851#0006">603851.0006</a>). The latter patient inherited the mutation from his unaffected mother, suggesting incomplete penetrance. PHOX2B was the first gene in which germline mutations were demonstrated to predispose to neuroblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024693" 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 2 affected members of a family with neuroblastoma, <a href="#2" class="mim-tip-reference" title="McConville, C., Reid, S., Baskcomb, L., Douglas, J., Rahman, N. <strong>PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.</strong> Am. J. Med. Genet. 140A: 1297-1301, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16691592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16691592</a>] [<a href="https://doi.org/10.1002/ajmg.a.31278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16691592">McConville et al. (2006)</a> identified a heterozygous mutation in the PHOX2B gene (G197D; <a href="/entry/603851#0008">603851.0008</a>). Two unaffected sibs of the index patient's grandmother also carried the mutation, indicating incomplete penetrance. The mutation was located outside of domains typically affected in other PHOX2B syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16691592" 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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Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simmoneau, M., Vekemans, M., Munnich, A., Gaultier, C., Lyonnet, S.
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Nature Genet. 33: 459-460, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12640453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12640453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12640453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.</strong>
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Am. J. Med. Genet. 140A: 1297-1301, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16691592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16691592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16691592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Pediat. Pulmonol. 33: 71-76, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11747263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11747263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11747263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A., Lyonnet, S., Delattre, O., Amiel, J.
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<strong>Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.</strong>
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Am. J. Hum. Genet. 74: 761-764, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin : 9/16/2009
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carol : 10/12/2016<br>carol : 05/24/2016<br>carol : 9/21/2009<br>ckniffin : 9/18/2009
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NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
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Other entities represented in this entry:
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<span class="h3 mim-font">
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NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED
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<strong>ORPHA:</strong> 635;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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4p13
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<span class="mim-font">
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Neuroblastoma with Hirschsprung disease
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</td>
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<td>
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<span class="mim-font">
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613013
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</td>
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<td>
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<span class="mim-font">
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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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<span class="mim-font">
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PHOX2B
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<span class="mim-font">
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603851
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<span class="mim-font">
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4p13
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<span class="mim-font">
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{Neuroblastoma, susceptibility to, 2}
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<td>
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<span class="mim-font">
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613013
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<span class="mim-font">
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<span class="mim-font">
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3
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<span class="mim-font">
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PHOX2B
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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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603851
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</table>
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<br />
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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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<p>A number sign (#) is used with this entry because of evidence that susceptibility to neuroblastoma-2 (NBLST2) is conferred by germline mutation in the PHOX2B gene (603851) on chromosome 4p13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700).</p><p>See also congenital central hypoventilation syndrome (CCHS; 209880), which is also caused by mutation in the PHOX2B gene. Patients with CCHS have a high predisposing risk of developing a tumor of the sympathetic nervous system, as indicated by a 5 to 10% occurrence of neuroblastoma, ganglioneuroblastoma, and ganglioneuroma (Rohrer et al., 2002; Amiel et al., 2003). </p>
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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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<p>Trochet et al. (2004) reported a family with neuroblastoma. The proband had a multifocal abdominal ganglioneuroma surgically removed at age 10 years. His younger brother presented with an abdominal neuroblastoma at age 6 years, which was surgically removed, and experienced local recurrences 18 months and 30 months later. The father had a ganglioneuroma of the adrenal medulla, which was surgically removed at age 44 years. An unrelated patient had a diagnosis of Hirschsprung disease (HSCR1; 142623) in the neonatal period and was treated surgically with a good result. Multifocal neuroblastoma tumors, both thoracic and abdominal, were diagnosed at age 9 months and were surgically removed. A 10-year follow-up showed no recurrence. </p><p>McConville et al. (2006) reported a family with neuroblastoma. The index case, from whom no DNA was available, died at age 5 years with metastatic neuroblastoma and ganglioneuroblastoma. Her father and paternal grandmother both had adult-onset ganglioneuroblastoma. Another paternal relative, from whom DNA was not available, died at age 14 years from ganglioneuroblastoma. None of the family members had Hirschsprung disease or any features of autonomic dysfunction. </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>Trochet et al. (2004) identified germline mutations in the PHOX2B gene in both a familial case of neuroblastoma (R100L; 603851.0005) and in a patient with sporadic neuroblastoma associated with Hirschsprung disease (R141G; 603851.0006). The latter patient inherited the mutation from his unaffected mother, suggesting incomplete penetrance. PHOX2B was the first gene in which germline mutations were demonstrated to predispose to neuroblastoma. </p><p>In 2 affected members of a family with neuroblastoma, McConville et al. (2006) identified a heterozygous mutation in the PHOX2B gene (G197D; 603851.0008). Two unaffected sibs of the index patient's grandmother also carried the mutation, indicating incomplete penetrance. The mutation was located outside of domains typically affected in other PHOX2B syndromes. </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>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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Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simmoneau, M., Vekemans, M., Munnich, A., Gaultier, C., Lyonnet, S.
|
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<strong>Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.</strong>
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Nature Genet. 33: 459-460, 2003.
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[PubMed: 12640453]
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[Full Text: https://doi.org/10.1038/ng1130]
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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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McConville, C., Reid, S., Baskcomb, L., Douglas, J., Rahman, N.
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<strong>PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.</strong>
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Am. J. Med. Genet. 140A: 1297-1301, 2006.
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[PubMed: 16691592]
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[Full Text: https://doi.org/10.1002/ajmg.a.31278]
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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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Rohrer, T., Trachsel, D., Engelcke, G., Hammer, J.
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<strong>Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.</strong>
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Pediat. Pulmonol. 33: 71-76, 2002.
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[PubMed: 11747263]
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[Full Text: https://doi.org/10.1002/ppul.10031]
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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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Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A., Lyonnet, S., Delattre, O., Amiel, J.
|
|
<strong>Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.</strong>
|
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Am. J. Hum. Genet. 74: 761-764, 2004.
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[PubMed: 15024693]
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[Full Text: https://doi.org/10.1086/383253]
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 9/16/2009
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Edit History:
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<span class="mim-text-font">
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carol : 10/10/2019<br>carol : 10/12/2016<br>carol : 05/24/2016<br>carol : 9/21/2009<br>ckniffin : 9/18/2009
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