2770 lines
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- #118400 - CHERUBISM
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- OMIM
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<p>
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<span class="h4">#118400</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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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/118400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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<span class="small">
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<div style="display: table-row">
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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>
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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="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHERUBISM" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=996&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1137/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8433" 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://medlineplus.gov/genetics/condition/cherubism" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118400[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=184" 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.possumcore.com/nuxeo/nxdoc/default/e40b3d45-950d-43ea-ac02-fd6c413de01a/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</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:1856" 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/118400" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:118400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</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> 76098004<br />
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<strong>ICD10CM:</strong> M27.8<br />
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<strong>ORPHA:</strong> 184<br />
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<strong>DO:</strong> 1856<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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118400
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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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CHERUBISM
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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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CRBM
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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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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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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<tbody>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/47?start=-3&limit=10&highlight=47">
|
|
4p16.3
|
|
</a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cherubism
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118400"> 118400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SH3BP2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602104"> 602104 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/118400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/118400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/118400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Round face due to facial swelling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861649</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Round-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Broad cheeks due to facial swelling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861650</a>]</span><br /> -
|
|
Symmetric, hard, painless, swelling of the jaw region <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861651</a>]</span><br /> -
|
|
Maxillary enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861652</a>]</span><br /> -
|
|
Mandibular enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861653</a>]</span><br /> -
|
|
Enlarged submandibular lymph nodes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127082004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127082004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1264056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1264056</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033176</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Proptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Upward displacement of the globes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861655</a>]</span><br /> -
|
|
Lower eyelid retraction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700264006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700264006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302015009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302015009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030802</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030802</a>]</span><br /> -
|
|
Orbital mass <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240606</a>]</span><br /> -
|
|
Optic neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77157004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77157004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029132</a>, <a href="https://bioportal.bioontology.org/search?q=C3887709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001138</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001138</a>]</span><br /> -
|
|
Marcus-Gunn pupil <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232121005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232121005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339662</a>]</span><br /> -
|
|
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Depressed visual field <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span><br /> -
|
|
Macular striae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861658</a>]</span><br /> -
|
|
Macular scarring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18410006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18410006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423428&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423428</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200056</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
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Agenesis of teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234951001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234951001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26624006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26624006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/520.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">520.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000674</a>]</span><br /> -
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Displaced teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81256000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81256000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/133845002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">133845002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155940&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155940</a>]</span><br />
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<strong> SKELETAL </strong>
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<em> Skull </em>
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- Loss of bone and replacement by fibrous tissue restricted to jaw <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861660</a>]</span><br /> -
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Multilocular radiolucencies in the jaw bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861661</a>]</span><br /> -
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Histology shows multiple osteoclast-like cells in a fibrous and cellular stroma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861662</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset 14 months to 4 years of age<br /> -
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Progresses through puberty, then stabilizes<br /> -
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May regress in adulthood<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the SH3 domain-binding protein-2 gene (SH3BP2, <a href="/entry/602104#0001">602104.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that cherubism is caused by heterozygous mutation in the SH3BP2 gene (<a href="/entry/602104">602104</a>) on chromosome 4p16.</p>
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<p>Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by <a href="#13" class="mim-tip-reference" title="Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R. <strong>The gene for cherubism maps to chromosome 4p16.</strong> Am. J. Hum. Genet. 65: 158-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364528</a>] [<a href="https://doi.org/10.1086/302456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364528">Tiziani et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364528" 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>Clinical Features</strong>
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<p>Swelling of the lower face begins around the third or fourth year of life and progresses until the late teens. The swelling may be exaggerated by enlargement of submandibular lymph nodes. X-ray reveals multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs. Though clinical swelling usually abates by the third decade, radiographic changes commonly persist into the fourth decade. The condition must be differentiated from Caffey disease (<a href="/entry/114000">114000</a>) in which the x-ray appearance is different and involvement of the skeleton, e.g., the tibia, is more widespread. It is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw, etc. (see <a href="#5" class="mim-tip-reference" title="Khosla, V. M., Korobkin, M. <strong>Cherubism.</strong> Am. J. Dis. Child. 120: 458-461, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5474754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5474754</a>] [<a href="https://doi.org/10.1001/archpedi.1970.02100100122016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5474754">Khosla and Korobkin, 1970</a>; <a href="#7" class="mim-tip-reference" title="Peters, W. J. N. <strong>Cherubism: a study of twenty cases from one family.</strong> Oral Surg. 47: 307-311, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/285398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">285398</a>] [<a href="https://doi.org/10.1016/0030-4220(79)90251-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="285398">Peters, 1979</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=285398+5474754" 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="Jones, W. A. <strong>Cherubism: a thumbnail sketch of its diagnosis and a conservative method of treatment.</strong> Oral Surg. 20: 648-653, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5213235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5213235</a>] [<a href="https://doi.org/10.1016/0030-4220(65)90111-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5213235">Jones (1965)</a>, who was the first to describe the entity, pointed out that lack of signs or history in either parent does not exclude the possibility of one's being affected. In one of his cases, the disorder would not have been discovered, or even suspected, were it not that x-rays were made in childhood in a deliberate search for the entity because of its occurrence in other members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5213235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Salinas, C. F., Bradford, B. F., Laden, S. A., Neville, B. W. <strong>Cherubism associated with rib anomalies. (Abstract)</strong> Proc. Greenwood Genet. Center 2: 129-130, 1983."None>Salinas et al. (1983)</a> reported 2 cases of cherubism with multilocular cystic lesions of the ribs in addition to those of the mandible. In 1 of the patients, biopsy of both the jaw and the rib lesions showed numerous multinucleated giant cells in cellular fibrous tissue.</p><p><a href="#8" class="mim-tip-reference" title="Quan, F., Grompe, M., Jakobs, P., Popovich, B. W. <strong>Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.</strong> Hum. Molec. Genet. 4: 1681-1684, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541863</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541863">Quan et al. (1995)</a> described cherubism in association with mental retardation due to mosaicism for expansion and deletion of the FMR1 (<a href="/entry/309550">309550</a>) CGG repeat, i.e., the fragile X syndrome (<a href="/entry/300624">300624</a>). Although these were probably independent mutations, <a href="#8" class="mim-tip-reference" title="Quan, F., Grompe, M., Jakobs, P., Popovich, B. W. <strong>Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.</strong> Hum. Molec. Genet. 4: 1681-1684, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541863</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541863">Quan et al. (1995)</a> pointed out the peculiarities of the inheritance of cherubism, which has been thought to be an autosomal dominant: twice as many males are affected as females, and whereas penetrance in males is 100%, penetrance in females is only 50 to 70%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541863" 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="#13" class="mim-tip-reference" title="Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R. <strong>The gene for cherubism maps to chromosome 4p16.</strong> Am. J. Hum. Genet. 65: 158-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364528</a>] [<a href="https://doi.org/10.1086/302456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364528">Tiziani et al. (1999)</a> reported a 3-generation family, in which the mandible in males was more severely affected than the maxilla, whereas in females the maxilla was more severely affected. On average, the clinical onset of the disease was earlier in females (5.5 years of age) than in males (10.6 years of age). The description of the 14-year-old female proband with maxillary enlargement that started at the age of 5 included enlarged submandibular lymph nodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Stiller, M., Urban, M., Golder, W., Tiziani, V., Reichenberger, E., Frege, J., Opitz, C., Peters, H. <strong>Craniosynostosis in cherubism.</strong> Am. J. Med. Genet. 95: 325-331, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186885</a>]" pmid="11186885">Stiller et al. (2000)</a> reported 3 affected males (a boy, his father, and his paternal grandfather) with cherubism. The boy also had craniosynostosis of the sagittal and coronal sutures. The father and paternal grandfather had cherubism and clubbing of the fingers; neither had any underlying cardiac or pulmonary problem which could explain their clubbed fingers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186885" 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="Ahmadi, A. J., Pirinjian, G. E., Sires, B. S. <strong>Optic neuropathy and macular chorioretinal folds caused by orbital cherubism.</strong> Arch. Ophthal. 121: 570-573, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12695257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12695257</a>] [<a href="https://doi.org/10.1001/archopht.121.4.570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12695257">Ahmadi et al. (2003)</a> reported a case of orbital cherubism with visual loss directly attributable to optic neuropathy and macular striae/scarring that resulted from the effect of the orbital fibroosseous tumor pressing on the eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12695257" 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>Inheritance</strong>
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<p>The transmission pattern of cherubism in the families reported by <a href="#14" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" 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="#13" class="mim-tip-reference" title="Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R. <strong>The gene for cherubism maps to chromosome 4p16.</strong> Am. J. Hum. Genet. 65: 158-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364528</a>] [<a href="https://doi.org/10.1086/302456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364528">Tiziani et al. (1999)</a> and <a href="#6" class="mim-tip-reference" title="Mangion, J., Rahman, N., Edkins, S., Barfoot, R., Nguyen, T., Sigurdsson, A., Townend, J. V., Fitzpatrick, D. R., Flanagan, A. M., Stratton, M. R. <strong>The gene for cherubism maps to chromosome 4p16.3.</strong> Am. J. Hum. Genet. 65: 151-157, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364527</a>] [<a href="https://doi.org/10.1086/302454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364527">Mangion et al. (1999)</a> mapped a cherubism locus to chromosome 4p16. <a href="#13" class="mim-tip-reference" title="Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R. <strong>The gene for cherubism maps to chromosome 4p16.</strong> Am. J. Hum. Genet. 65: 158-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364528</a>] [<a href="https://doi.org/10.1086/302456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364528">Tiziani et al. (1999)</a> used a genomewide search in a 3-generation family. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined lod score was 4.21 at a recombination fraction of zero, and the locus spanned an interval of approximately 22 cM. Using 2 families with clinically, radiologically, and/or histologically proved cherubism, <a href="#6" class="mim-tip-reference" title="Mangion, J., Rahman, N., Edkins, S., Barfoot, R., Nguyen, T., Sigurdsson, A., Townend, J. V., Fitzpatrick, D. R., Flanagan, A. M., Stratton, M. R. <strong>The gene for cherubism maps to chromosome 4p16.3.</strong> Am. J. Hum. Genet. 65: 151-157, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364527</a>] [<a href="https://doi.org/10.1086/302454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364527">Mangion et al. (1999)</a> also performed a genomewide linkage search and mapped the locus to chromosome 4p16.3, with a maximum multipoint lod score at 5.64. Critical meiotic recombinants restricted the locus to a 3-cM interval between D4S127 and the telomere of 4p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364528+10364527" 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 linkage and haplotype analysis of 12 families with cherubism, <a href="#14" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> refined the cherubism locus to a 1.5-Mb interval between markers D4S127 and D4S115 on chromosome 4p16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" 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>By sequencing cDNA and genomic DNA from affected and unaffected members from 12 families with cherubism, <a href="#14" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> detected point mutations that caused amino acid substitutions in the SH3BP2 gene (<a href="/entry/602104#0001">602104.0001</a>-<a href="/entry/602104#0007">602104.0007</a>). All mutations were in exon 9 and affected 3 amino acids within a 6-amino acid sequence (RSPPDG) located 31 to 36 amino acids upstream of the SH2 domain and 205 to 210 amino acids downstream of the SH3-binding domain. Mutations in pro418 (to leu, arg, or his) were the most common and occurred in 8 families. Other mutations resulted in gly420 being replaced by glu or arg and in arg415 being replaced by pro or gln. SH3BP2 lies within a region that is frequently deleted in individuals with Wolf-Hirschhorn syndrome (<a href="/entry/194190">194190</a>). Haploinsufficiency of SH3BP2 in individuals with that syndrome does not result in cherubism or cherubism-like characteristics. This finding and the clustering of amino acid missense mutations in SH3BP2 support the hypothesis that the mutations in SH3BP2 lead to a gain of function or act in a dominant-negative manner. The onset of the abnormalities of cherubism and their organ-restricted characteristics may be related to dental developmental processes in children, when signals unique to the mandible and maxilla are transmitted through the extracellular matrix, triggered by the eruption of secondary teeth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Anderson1962" class="mim-tip-reference" title="Anderson, D. E., McClendon, J. L. <strong>Cherubism-hereditary fibrous dysplasia of the jaws. I. Genetic considerations.</strong> Oral Surg. 15 (suppl. 2): 5-16, 1962.">Anderson and McClendon (1962)</a>; <a href="#Burland1962" class="mim-tip-reference" title="Burland, J. G. <strong>Cherubism: familial bilateral osseous dysplasia of the jaws.</strong> Oral Surg. 15 (suppl. 2): 43-68, 1962.">Burland (1962)</a>; <a href="#Salzano1966" class="mim-tip-reference" title="Salzano, F. M., Ebling, H. <strong>Cherubism in a Brazilian kindred.</strong> Acta Genet. Med. Gemellol. 15: 296-301, 1966.">Salzano and Ebling
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(1966)</a>; <a href="#Thompson1959" class="mim-tip-reference" title="Thompson, N. <strong>Cherubism: familial fibrous dysplasia of the jaws.</strong> Brit. J. Plast. Surg. 12: 89-103, 1959.">Thompson (1959)</a>
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Ahmadi, A. J., Pirinjian, G. E., Sires, B. S.
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<strong>Optic neuropathy and macular chorioretinal folds caused by orbital cherubism.</strong>
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Arch. Ophthal. 121: 570-573, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12695257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12695257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12695257" 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/10.1001/archopht.121.4.570" target="_blank">Full Text</a>]
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Anderson, D. E., McClendon, J. L.
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<strong>Cherubism-hereditary fibrous dysplasia of the jaws. I. Genetic considerations.</strong>
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Oral Surg. 15 (suppl. 2): 5-16, 1962.
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Burland, J. G.
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<strong>Cherubism: familial bilateral osseous dysplasia of the jaws.</strong>
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Oral Surg. 15 (suppl. 2): 43-68, 1962.
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Jones, W. A.
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<strong>Cherubism: a thumbnail sketch of its diagnosis and a conservative method of treatment.</strong>
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Oral Surg. 20: 648-653, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5213235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5213235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5213235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0030-4220(65)90111-8" target="_blank">Full Text</a>]
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Khosla, V. M., Korobkin, M.
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<strong>Cherubism.</strong>
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Am. J. Dis. Child. 120: 458-461, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5474754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5474754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5474754" 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/10.1001/archpedi.1970.02100100122016" target="_blank">Full Text</a>]
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Mangion, J., Rahman, N., Edkins, S., Barfoot, R., Nguyen, T., Sigurdsson, A., Townend, J. V., Fitzpatrick, D. R., Flanagan, A. M., Stratton, M. R.
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<strong>The gene for cherubism maps to chromosome 4p16.3.</strong>
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Am. J. Hum. Genet. 65: 151-157, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364527" 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/10.1086/302454" target="_blank">Full Text</a>]
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Peters, W. J. N.
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<strong>Cherubism: a study of twenty cases from one family.</strong>
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Oral Surg. 47: 307-311, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/285398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">285398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=285398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0030-4220(79)90251-2" target="_blank">Full Text</a>]
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Quan, F., Grompe, M., Jakobs, P., Popovich, B. W.
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<strong>Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.</strong>
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Hum. Molec. Genet. 4: 1681-1684, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.9.1681" target="_blank">Full Text</a>]
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Salinas, C. F., Bradford, B. F., Laden, S. A., Neville, B. W.
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<strong>Cherubism associated with rib anomalies. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 129-130, 1983.
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Salzano, F. M., Ebling, H.
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<strong>Cherubism in a Brazilian kindred.</strong>
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Acta Genet. Med. Gemellol. 15: 296-301, 1966.
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<a id="11" class="mim-anchor"></a>
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<a id="Stiller2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stiller, M., Urban, M., Golder, W., Tiziani, V., Reichenberger, E., Frege, J., Opitz, C., Peters, H.
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<strong>Craniosynostosis in cherubism.</strong>
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Am. J. Med. Genet. 95: 325-331, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Thompson1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, N.
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<strong>Cherubism: familial fibrous dysplasia of the jaws.</strong>
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Brit. J. Plast. Surg. 12: 89-103, 1959.
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<a id="13" class="mim-anchor"></a>
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<a id="Tiziani1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R.
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<strong>The gene for cherubism maps to chromosome 4p16.</strong>
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Am. J. Hum. Genet. 65: 158-166, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364528" 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/10.1086/302456" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Ueki2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E.
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<strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong>
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Nature Genet. 28: 125-126, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" 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/10.1038/88832" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly - updated : 8/19/2003
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<span class="mim-text-font">
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Victor A. McKusick - updated : 5/24/2001<br>Sonja A. Rasmussen - updated : 1/8/2001<br>Victor A. McKusick - updated : 6/28/1999
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 10/28/2022
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<span class="mim-text-font">
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carol : 01/23/2020<br>carol : 05/24/2016<br>wwang : 6/4/2010<br>carol : 11/27/2006<br>carol : 8/19/2003<br>alopez : 5/29/2001<br>terry : 5/24/2001<br>carol : 1/11/2001<br>mcapotos : 1/10/2001<br>mcapotos : 1/8/2001<br>carol : 7/9/1999<br>jlewis : 7/6/1999<br>terry : 6/28/1999<br>mark : 9/22/1995<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<span class="mim-font">
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<strong>#</strong> 118400
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<h3>
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<span class="mim-font">
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CHERUBISM
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CRBM
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<strong>SNOMEDCT:</strong> 76098004;
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<strong>ICD10CM:</strong> M27.8;
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<strong>ORPHA:</strong> 184;
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<strong>DO:</strong> 1856;
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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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Location
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Phenotype
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</th>
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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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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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4p16.3
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<span class="mim-font">
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Cherubism
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<span class="mim-font">
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118400
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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SH3BP2
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</span>
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<td>
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<span class="mim-font">
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602104
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that cherubism is caused by heterozygous mutation in the SH3BP2 gene (602104) on chromosome 4p16.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by Tiziani et al., 1999). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Swelling of the lower face begins around the third or fourth year of life and progresses until the late teens. The swelling may be exaggerated by enlargement of submandibular lymph nodes. X-ray reveals multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs. Though clinical swelling usually abates by the third decade, radiographic changes commonly persist into the fourth decade. The condition must be differentiated from Caffey disease (114000) in which the x-ray appearance is different and involvement of the skeleton, e.g., the tibia, is more widespread. It is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw, etc. (see Khosla and Korobkin, 1970; Peters, 1979). </p><p>Jones (1965), who was the first to describe the entity, pointed out that lack of signs or history in either parent does not exclude the possibility of one's being affected. In one of his cases, the disorder would not have been discovered, or even suspected, were it not that x-rays were made in childhood in a deliberate search for the entity because of its occurrence in other members of the family. </p><p>Salinas et al. (1983) reported 2 cases of cherubism with multilocular cystic lesions of the ribs in addition to those of the mandible. In 1 of the patients, biopsy of both the jaw and the rib lesions showed numerous multinucleated giant cells in cellular fibrous tissue.</p><p>Quan et al. (1995) described cherubism in association with mental retardation due to mosaicism for expansion and deletion of the FMR1 (309550) CGG repeat, i.e., the fragile X syndrome (300624). Although these were probably independent mutations, Quan et al. (1995) pointed out the peculiarities of the inheritance of cherubism, which has been thought to be an autosomal dominant: twice as many males are affected as females, and whereas penetrance in males is 100%, penetrance in females is only 50 to 70%. </p><p>Tiziani et al. (1999) reported a 3-generation family, in which the mandible in males was more severely affected than the maxilla, whereas in females the maxilla was more severely affected. On average, the clinical onset of the disease was earlier in females (5.5 years of age) than in males (10.6 years of age). The description of the 14-year-old female proband with maxillary enlargement that started at the age of 5 included enlarged submandibular lymph nodes. </p><p>Stiller et al. (2000) reported 3 affected males (a boy, his father, and his paternal grandfather) with cherubism. The boy also had craniosynostosis of the sagittal and coronal sutures. The father and paternal grandfather had cherubism and clubbing of the fingers; neither had any underlying cardiac or pulmonary problem which could explain their clubbed fingers. </p><p>Ahmadi et al. (2003) reported a case of orbital cherubism with visual loss directly attributable to optic neuropathy and macular striae/scarring that resulted from the effect of the orbital fibroosseous tumor pressing on the eye. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of cherubism in the families reported by Ueki et al. (2001) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Tiziani et al. (1999) and Mangion et al. (1999) mapped a cherubism locus to chromosome 4p16. Tiziani et al. (1999) used a genomewide search in a 3-generation family. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined lod score was 4.21 at a recombination fraction of zero, and the locus spanned an interval of approximately 22 cM. Using 2 families with clinically, radiologically, and/or histologically proved cherubism, Mangion et al. (1999) also performed a genomewide linkage search and mapped the locus to chromosome 4p16.3, with a maximum multipoint lod score at 5.64. Critical meiotic recombinants restricted the locus to a 3-cM interval between D4S127 and the telomere of 4p. </p><p>By linkage and haplotype analysis of 12 families with cherubism, Ueki et al. (2001) refined the cherubism locus to a 1.5-Mb interval between markers D4S127 and D4S115 on chromosome 4p16. </p>
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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 class="mim-text-font">
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<p>By sequencing cDNA and genomic DNA from affected and unaffected members from 12 families with cherubism, Ueki et al. (2001) detected point mutations that caused amino acid substitutions in the SH3BP2 gene (602104.0001-602104.0007). All mutations were in exon 9 and affected 3 amino acids within a 6-amino acid sequence (RSPPDG) located 31 to 36 amino acids upstream of the SH2 domain and 205 to 210 amino acids downstream of the SH3-binding domain. Mutations in pro418 (to leu, arg, or his) were the most common and occurred in 8 families. Other mutations resulted in gly420 being replaced by glu or arg and in arg415 being replaced by pro or gln. SH3BP2 lies within a region that is frequently deleted in individuals with Wolf-Hirschhorn syndrome (194190). Haploinsufficiency of SH3BP2 in individuals with that syndrome does not result in cherubism or cherubism-like characteristics. This finding and the clustering of amino acid missense mutations in SH3BP2 support the hypothesis that the mutations in SH3BP2 lead to a gain of function or act in a dominant-negative manner. The onset of the abnormalities of cherubism and their organ-restricted characteristics may be related to dental developmental processes in children, when signals unique to the mandible and maxilla are transmitted through the extracellular matrix, triggered by the eruption of secondary teeth. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Anderson and McClendon (1962); Burland (1962); Salzano and Ebling
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(1966); Thompson (1959)
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</span>
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<div>
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<br />
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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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<ol>
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<li>
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<p class="mim-text-font">
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Ahmadi, A. J., Pirinjian, G. E., Sires, B. S.
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<strong>Optic neuropathy and macular chorioretinal folds caused by orbital cherubism.</strong>
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Arch. Ophthal. 121: 570-573, 2003.
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[PubMed: 12695257]
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[Full Text: https://doi.org/10.1001/archopht.121.4.570]
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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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Anderson, D. E., McClendon, J. L.
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<strong>Cherubism-hereditary fibrous dysplasia of the jaws. I. Genetic considerations.</strong>
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Oral Surg. 15 (suppl. 2): 5-16, 1962.
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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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Burland, J. G.
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<strong>Cherubism: familial bilateral osseous dysplasia of the jaws.</strong>
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Oral Surg. 15 (suppl. 2): 43-68, 1962.
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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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Jones, W. A.
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<strong>Cherubism: a thumbnail sketch of its diagnosis and a conservative method of treatment.</strong>
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Oral Surg. 20: 648-653, 1965.
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[PubMed: 5213235]
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[Full Text: https://doi.org/10.1016/0030-4220(65)90111-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Khosla, V. M., Korobkin, M.
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<strong>Cherubism.</strong>
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Am. J. Dis. Child. 120: 458-461, 1970.
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[PubMed: 5474754]
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[Full Text: https://doi.org/10.1001/archpedi.1970.02100100122016]
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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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Mangion, J., Rahman, N., Edkins, S., Barfoot, R., Nguyen, T., Sigurdsson, A., Townend, J. V., Fitzpatrick, D. R., Flanagan, A. M., Stratton, M. R.
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<strong>The gene for cherubism maps to chromosome 4p16.3.</strong>
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Am. J. Hum. Genet. 65: 151-157, 1999.
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[PubMed: 10364527]
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[Full Text: https://doi.org/10.1086/302454]
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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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Peters, W. J. N.
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<strong>Cherubism: a study of twenty cases from one family.</strong>
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Oral Surg. 47: 307-311, 1979.
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[PubMed: 285398]
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[Full Text: https://doi.org/10.1016/0030-4220(79)90251-2]
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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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Quan, F., Grompe, M., Jakobs, P., Popovich, B. W.
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<strong>Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.</strong>
|
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Hum. Molec. Genet. 4: 1681-1684, 1995.
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[PubMed: 8541863]
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[Full Text: https://doi.org/10.1093/hmg/4.9.1681]
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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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Salinas, C. F., Bradford, B. F., Laden, S. A., Neville, B. W.
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<strong>Cherubism associated with rib anomalies. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 129-130, 1983.
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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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Salzano, F. M., Ebling, H.
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<strong>Cherubism in a Brazilian kindred.</strong>
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Acta Genet. Med. Gemellol. 15: 296-301, 1966.
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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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Stiller, M., Urban, M., Golder, W., Tiziani, V., Reichenberger, E., Frege, J., Opitz, C., Peters, H.
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<strong>Craniosynostosis in cherubism.</strong>
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Am. J. Med. Genet. 95: 325-331, 2000.
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[PubMed: 11186885]
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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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Thompson, N.
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<strong>Cherubism: familial fibrous dysplasia of the jaws.</strong>
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Brit. J. Plast. Surg. 12: 89-103, 1959.
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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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Tiziani, V., Reichenberger, E., Buzzo, C. L., Niazi, S., Fukai, N., Stiller, M., Peters, H., Salzano, F. M., Raposo do Amaral, C. M., Olsen, B. R.
|
|
<strong>The gene for cherubism maps to chromosome 4p16.</strong>
|
|
Am. J. Hum. Genet. 65: 158-166, 1999.
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[PubMed: 10364528]
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[Full Text: https://doi.org/10.1086/302456]
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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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Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E.
|
|
<strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong>
|
|
Nature Genet. 28: 125-126, 2001.
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[PubMed: 11381256]
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[Full Text: https://doi.org/10.1038/88832]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Jane Kelly - updated : 8/19/2003<br>Victor A. McKusick - updated : 5/24/2001<br>Sonja A. Rasmussen - updated : 1/8/2001<br>Victor A. McKusick - updated : 6/28/1999
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Victor A. McKusick : 6/4/1986
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