2563 lines
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Entry
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- #166260 - GNATHODIAPHYSEAL DYSPLASIA; GDD
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- OMIM
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<p>
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<span class="h4">#166260</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/166260"><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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(GNATHODIAPHYSEAL DYSPLASIA) OR (ANO5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10739&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5453" 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/gnathodiaphyseal-dysplasia" 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=166260[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=53697" 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/3eaca127-b855-4bef-96c7-ced2a9f2413b/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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<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 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:0111533" 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/166260" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111533" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715568002<br />
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<strong>ORPHA:</strong> 53697<br />
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<strong>DO:</strong> 0111533<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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166260
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</span>
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</span>
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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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GNATHODIAPHYSEAL DYSPLASIA; GDD
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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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OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS<br />
|
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GNATHODIAPHYSEAL SCLEROSIS
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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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<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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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/243?start=-3&limit=10&highlight=243">
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11p14.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Gnathodiaphyseal dysplasia
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/166260"> 166260 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ANO5
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/608662"> 608662 </a>
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<a href="/clinicalSynopsis/166260" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/166260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/166260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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- 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 />
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Face </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Face deformity due to enlarged jaw bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805827</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<em> Mouth </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Jaw infection (osteomyelitis) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805828</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br /> -
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Bone fragility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1390474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1390474</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002659</a>]</span><br /> -
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Jaw lesions show fibroblasts in fibrous stromal tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810464</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skull </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Cemento-osseous lesions (maxilla and mandible) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833737</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Leg bowing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79168008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79168008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q68.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q68.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.44</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152432</a>]</span><br /> -
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Diaphyseal bowing (radius, ulnae, tibiae, fibula) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006487</a>]</span><br /> -
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Diaphyseal cortical sclerosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833739</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005045</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005045</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in first or second decade<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the anoctamin 5 gene gene (ANO5, <a href="/entry/608662#0001">608662.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that gnathodiaphyseal dysplasia (GDD) is caused by heterozygous mutation in the ANO5 gene (<a href="/entry/608662">608662</a>) on chromosome 11p14.</p>
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</span>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by <a href="#4" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a> described a large Japanese family in which 21 individuals exhibited frequent bone fractures in adolescence and purulent osteomyelitis of the jaws during adult life, with autosomal dominant inheritance. Affected individuals experienced frequent bone fractures caused by trivial accidents in childhood; however, the fractures healed normally without bone deformity. The jaw lesions replaced the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. The patients also had a propensity for jaw infection and often suffered from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction, and exposure of the lesions into the oral cavity. Extragnathic skeletal changes consisted of generalized coarse bony trabeculae and gross thickening of the diaphyseal cortices of long bones. <a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a> called the condition hereditary gnathodiaphyseal sclerosis because it was distinguished from known systemic bone diseases by coincidence of bone fragility, sclerosis of tubular bones, cementoosseous lesions of the jaw bone, and no abnormalities of nonskeletal tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5816667" 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>Sporadic cases with similar clinical manifestations were reported by <a href="#2" class="mim-tip-reference" title="Colavita, N., Kozlowski, K., La Vecchia, G., Fileni, A., Ricci, R. <strong>Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws: report of a case.</strong> Australas Radiol. 28: 226-231, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517811</a>] [<a href="https://doi.org/10.1111/j.1440-1673.1984.tb02511.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6517811">Colavita et al. (1984)</a> and <a href="#5" class="mim-tip-reference" title="Nishimura, G., Haga, N., Ikeuchi, S., Yamaguchi, T., Aoki, K., Yamato, M. <strong>Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature.</strong> Skeletal Radiol. 25: 717-722, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958616</a>] [<a href="https://doi.org/10.1007/s002560050167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8958616">Nishimura et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6517811+8958616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L. <strong>Osteogenesis imperfecta with unusual skeletal lesions: report of three families.</strong> Am. J. Med. Genet. 21: 257-269, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014312</a>] [<a href="https://doi.org/10.1002/ajmg.1320210207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014312">Levin et al. (1985)</a> described 13 patients in 3 families with osteogenesis imperfecta (OI) who had multilocular radiolucent, radiopaque, or radiolucent-radiopaque lesions of the maxilla and mandible. In most patients, the lesions involved the tooth-bearing areas, but in 2, the rami also were involved. Teeth were normal. Radiologically the rest of the skeleton showed marked coarseness of trabeculae and diffuse osteopenia. <a href="#3" class="mim-tip-reference" title="Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L. <strong>Osteogenesis imperfecta with unusual skeletal lesions: report of three families.</strong> Am. J. Med. Genet. 21: 257-269, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014312</a>] [<a href="https://doi.org/10.1002/ajmg.1320210207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014312">Levin et al. (1985)</a> proposed that these patients had a distinct form of autosomal dominant OI. Male-to-male transmission occurred 3 times in 1 family with 4 affected males. In a second family 8 persons in 5 sibships in 3 generations were affected. A propensity for jaw infection was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4014312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Riminucci, M., Collins, M. T., Corsi, A., Boyde, A., Murphey, M. D., Wientroub, S., Kuznetsov, S. A., Cherman, N., Robey, P. G., Bianco, P. <strong>Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing.</strong> J. Bone Miner. Res. 16: 1710-1718, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11547842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11547842</a>] [<a href="https://doi.org/10.1359/jbmr.2001.16.9.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11547842">Riminucci et al. (2001)</a> reported a patient who had been diagnosed previously with polyostotic fibrous dysplasia (see <a href="/entry/174800">174800</a>). Cementoossifying fibroma of the jawbones occurred within the context of a complex skeletal syndrome of bone fragility and bowing with diaphyseal sclerosis of the long bones. The patient presented at 13 months of age with bilateral, relatively symmetric, expansile lesions in the maxillary bones associated with a sinus infection. In addition to their remarkable symmetry and expansile nature, the maxillary lesions exhibited a degree of lucency with occasional mineralized areas upon radiographic examination. Pathologic studies revealed participation of myofibroblasts, occurrence of psammomatoid bodies, and aberrant mineralization within walls of blood vessels. <a href="#7" class="mim-tip-reference" title="Riminucci, M., Collins, M. T., Corsi, A., Boyde, A., Murphey, M. D., Wientroub, S., Kuznetsov, S. A., Cherman, N., Robey, P. G., Bianco, P. <strong>Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing.</strong> J. Bone Miner. Res. 16: 1710-1718, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11547842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11547842</a>] [<a href="https://doi.org/10.1359/jbmr.2001.16.9.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11547842">Riminucci et al. (2001)</a> proposed the use of the term gnathodiaphyseal dysplasia (GDD), as opposed to gnathodiaphyseal sclerosis (<a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al., 1969</a>) or OI with unusual skeletal lesions (<a href="#3" class="mim-tip-reference" title="Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L. <strong>Osteogenesis imperfecta with unusual skeletal lesions: report of three families.</strong> Am. J. Med. Genet. 21: 257-269, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014312</a>] [<a href="https://doi.org/10.1002/ajmg.1320210207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014312">Levin et al., 1985</a>), to refer to the disorder, as osteosclerosis was not a feature of the jaw lesions and bone fragility was the only possible association to OI, a link <a href="#7" class="mim-tip-reference" title="Riminucci, M., Collins, M. T., Corsi, A., Boyde, A., Murphey, M. D., Wientroub, S., Kuznetsov, S. A., Cherman, N., Robey, P. G., Bianco, P. <strong>Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing.</strong> J. Bone Miner. Res. 16: 1710-1718, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11547842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11547842</a>] [<a href="https://doi.org/10.1359/jbmr.2001.16.9.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11547842">Riminucci et al. (2001)</a> deemed 'tenuous at best.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4014312+5816667+11547842" 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="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> noted that the patients reported by <a href="#2" class="mim-tip-reference" title="Colavita, N., Kozlowski, K., La Vecchia, G., Fileni, A., Ricci, R. <strong>Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws: report of a case.</strong> Australas Radiol. 28: 226-231, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517811</a>] [<a href="https://doi.org/10.1111/j.1440-1673.1984.tb02511.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6517811">Colavita et al. (1984)</a> and <a href="#5" class="mim-tip-reference" title="Nishimura, G., Haga, N., Ikeuchi, S., Yamaguchi, T., Aoki, K., Yamato, M. <strong>Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature.</strong> Skeletal Radiol. 25: 717-722, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958616</a>] [<a href="https://doi.org/10.1007/s002560050167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8958616">Nishimura et al. (1996)</a> had clinical manifestations similar to those in GDD; however, <a href="#6" class="mim-tip-reference" title="Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Makitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., and 11 others. <strong>Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.</strong> JCI Insight 4: e126180, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30779713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30779713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30779713[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/jci.insight.126180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30779713">Pekkinen et al. (2019)</a> reported these patients as having calvarial doughnut lesions with bone fragility (CDL; <a href="/entry/126550">126550</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30779713+6517811+8958616+15124103" 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="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> reported an Italian family in which multiple members had GDD. Two patients were examined in detail. The patients had onset of multiple spontaneous bone fractures at ages 11 and 8 years. Bones affected included the femur, vertebrae, and radius/ulna. Radiologic studies of 1 patient showed generalized decreased bone density. At age 25 years, 1 patient developed a gradual increase in the volume of the alveolar processes of the mandible and jaw, resulting in facial deformity. The lesions were removed at age 40, and studies of the material showed abundant fibroblasts in a fibrous stromal tissue with foci of calcification surrounded by a thick fibrous layer and a subtle fibroblast layer. The other patient had healing problems after extraction of wisdom teeth. Radiologic studies showed a cotton-wool-like pattern of the bony structure of the mandible, and biopsy showed similar histologic findings to the first patient. Other family members had similar features, including sclerosis of the jawbones, purulent osteomyelitis, and spontaneous fractures with slow healing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of GDD in the family reported by <a href="#4" class="mim-tip-reference" title="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" 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 linkage analysis of the Japanese family with GDD reported by <a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a>, <a href="#8" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Maruoka, Y., Ando, M., Tezuka, O., Enomoto, S., Omura, K., Nagayama, M., Kudo, E., Moritani, M., Yamaoka, T., Itakura, M. <strong>Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.</strong> J. Bone Miner. Res. 18: 413-418, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12619924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12619924</a>] [<a href="https://doi.org/10.1359/jbmr.2003.18.3.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12619924">Tsutsumi et al. (2003)</a> mapped the disease locus to an 8.7-cM interval on 11p15.1-p14.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816667+12619924" 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="#8" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Maruoka, Y., Ando, M., Tezuka, O., Enomoto, S., Omura, K., Nagayama, M., Kudo, E., Moritani, M., Yamaoka, T., Itakura, M. <strong>Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.</strong> J. Bone Miner. Res. 18: 413-418, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12619924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12619924</a>] [<a href="https://doi.org/10.1359/jbmr.2003.18.3.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12619924">Tsutsumi et al. (2003)</a> found no mutations in 8 genes shown by genome sequence data to be located in the GDD critical region. In a further search for GDD candidate genes, <a href="#9" class="mim-tip-reference" title="Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M. <strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong> Am. J. Hum. Genet. 74: 1255-1261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15124103">Tsutsumi et al. (2004)</a> investigated uncharacterized ESTs that mapped to the critical region. One of these represented a novel gene (ANO5), which they designated GDD1. Screening of GDD1 DNA in the Japanese family of <a href="#1" class="mim-tip-reference" title="Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y. <strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong> Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>]" pmid="5816667">Akasaka et al. (1969)</a> revealed that 14 affected members were heterozygous for a missense mutation in exon 11 (<a href="/entry/608662#0001">608662.0001</a>). A different missense mutation in the same codon (<a href="/entry/608662#0002">608662.0002</a>) was found in 2 affected members of a family of African American origin with GDD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816667+12619924+15124103" 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="Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M. <strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong> Europ. J. Hum. Genet. 21: 613-619, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047743">Marconi et al. (2013)</a> identified a heterozygous missense mutation in the ANO5 gene (<a href="/entry/608662#0009">608662.0009</a>) in affected members of an Italian family with GDD. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" 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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Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y.
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<strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong>
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Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5816667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5816667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5816667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Colavita, N., Kozlowski, K., La Vecchia, G., Fileni, A., Ricci, R.
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<strong>Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws: report of a case.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6517811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1440-1673.1984.tb02511.x" target="_blank">Full Text</a>]
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Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L.
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<strong>Osteogenesis imperfecta with unusual skeletal lesions: report of three families.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4014312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320210207" target="_blank">Full Text</a>]
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Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M.
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<strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong>
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Europ. J. Hum. Genet. 21: 613-619, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047743" 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/ejhg.2012.224" target="_blank">Full Text</a>]
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Nishimura, G., Haga, N., Ikeuchi, S., Yamaguchi, T., Aoki, K., Yamato, M.
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<strong>Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature.</strong>
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Skeletal Radiol. 25: 717-722, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8958616" 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/10.1007/s002560050167" target="_blank">Full Text</a>]
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Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Makitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., and 11 others.
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<strong>Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.</strong>
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JCI Insight 4: e126180, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30779713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30779713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30779713[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30779713" 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/10.1172/jci.insight.126180" target="_blank">Full Text</a>]
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Riminucci, M., Collins, M. T., Corsi, A., Boyde, A., Murphey, M. D., Wientroub, S., Kuznetsov, S. A., Cherman, N., Robey, P. G., Bianco, P.
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<strong>Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing.</strong>
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J. Bone Miner. Res. 16: 1710-1718, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11547842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11547842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11547842" 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/10.1359/jbmr.2001.16.9.1710" target="_blank">Full Text</a>]
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Tsutsumi, S., Kamata, N., Maruoka, Y., Ando, M., Tezuka, O., Enomoto, S., Omura, K., Nagayama, M., Kudo, E., Moritani, M., Yamaoka, T., Itakura, M.
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<strong>Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.</strong>
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J. Bone Miner. Res. 18: 413-418, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12619924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12619924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12619924" 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/10.1359/jbmr.2003.18.3.413" target="_blank">Full Text</a>]
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Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M.
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<strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong>
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Am. J. Hum. Genet. 74: 1255-1261, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15124103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15124103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15124103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15124103" 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/10.1086/421527" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 5/26/2004<br>Victor A. McKusick - updated : 6/5/1997
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alopez : 10/03/2023<br>carol : 05/06/2019<br>carol : 02/08/2016<br>carol : 8/15/2013<br>ckniffin : 8/12/2013<br>carol : 3/25/2010<br>terry : 8/6/2007<br>carol : 1/3/2007<br>terry : 11/15/2006<br>alopez : 5/28/2004<br>terry : 5/26/2004<br>terry : 6/5/1997<br>mimadm : 1/14/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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<span class="mim-font">
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<strong>#</strong> 166260
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GNATHODIAPHYSEAL DYSPLASIA; GDD
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<em>Alternative titles; symbols</em>
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OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS<br />
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GNATHODIAPHYSEAL SCLEROSIS
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<strong>SNOMEDCT:</strong> 715568002;
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<strong>ORPHA:</strong> 53697;
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<strong>DO:</strong> 0111533;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11p14.3
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<span class="mim-font">
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Gnathodiaphyseal dysplasia
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<span class="mim-font">
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166260
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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ANO5
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<span class="mim-font">
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608662
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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 gnathodiaphyseal dysplasia (GDD) is caused by heterozygous mutation in the ANO5 gene (608662) on chromosome 11p14.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013). </p>
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<strong>Clinical Features</strong>
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<p>Akasaka et al. (1969) described a large Japanese family in which 21 individuals exhibited frequent bone fractures in adolescence and purulent osteomyelitis of the jaws during adult life, with autosomal dominant inheritance. Affected individuals experienced frequent bone fractures caused by trivial accidents in childhood; however, the fractures healed normally without bone deformity. The jaw lesions replaced the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. The patients also had a propensity for jaw infection and often suffered from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction, and exposure of the lesions into the oral cavity. Extragnathic skeletal changes consisted of generalized coarse bony trabeculae and gross thickening of the diaphyseal cortices of long bones. Akasaka et al. (1969) called the condition hereditary gnathodiaphyseal sclerosis because it was distinguished from known systemic bone diseases by coincidence of bone fragility, sclerosis of tubular bones, cementoosseous lesions of the jaw bone, and no abnormalities of nonskeletal tissues. </p><p>Sporadic cases with similar clinical manifestations were reported by Colavita et al. (1984) and Nishimura et al. (1996). </p><p>Levin et al. (1985) described 13 patients in 3 families with osteogenesis imperfecta (OI) who had multilocular radiolucent, radiopaque, or radiolucent-radiopaque lesions of the maxilla and mandible. In most patients, the lesions involved the tooth-bearing areas, but in 2, the rami also were involved. Teeth were normal. Radiologically the rest of the skeleton showed marked coarseness of trabeculae and diffuse osteopenia. Levin et al. (1985) proposed that these patients had a distinct form of autosomal dominant OI. Male-to-male transmission occurred 3 times in 1 family with 4 affected males. In a second family 8 persons in 5 sibships in 3 generations were affected. A propensity for jaw infection was observed. </p><p>Riminucci et al. (2001) reported a patient who had been diagnosed previously with polyostotic fibrous dysplasia (see 174800). Cementoossifying fibroma of the jawbones occurred within the context of a complex skeletal syndrome of bone fragility and bowing with diaphyseal sclerosis of the long bones. The patient presented at 13 months of age with bilateral, relatively symmetric, expansile lesions in the maxillary bones associated with a sinus infection. In addition to their remarkable symmetry and expansile nature, the maxillary lesions exhibited a degree of lucency with occasional mineralized areas upon radiographic examination. Pathologic studies revealed participation of myofibroblasts, occurrence of psammomatoid bodies, and aberrant mineralization within walls of blood vessels. Riminucci et al. (2001) proposed the use of the term gnathodiaphyseal dysplasia (GDD), as opposed to gnathodiaphyseal sclerosis (Akasaka et al., 1969) or OI with unusual skeletal lesions (Levin et al., 1985), to refer to the disorder, as osteosclerosis was not a feature of the jaw lesions and bone fragility was the only possible association to OI, a link Riminucci et al. (2001) deemed 'tenuous at best.' </p><p>Tsutsumi et al. (2004) noted that the patients reported by Colavita et al. (1984) and Nishimura et al. (1996) had clinical manifestations similar to those in GDD; however, Pekkinen et al. (2019) reported these patients as having calvarial doughnut lesions with bone fragility (CDL; 126550). </p><p>Marconi et al. (2013) reported an Italian family in which multiple members had GDD. Two patients were examined in detail. The patients had onset of multiple spontaneous bone fractures at ages 11 and 8 years. Bones affected included the femur, vertebrae, and radius/ulna. Radiologic studies of 1 patient showed generalized decreased bone density. At age 25 years, 1 patient developed a gradual increase in the volume of the alveolar processes of the mandible and jaw, resulting in facial deformity. The lesions were removed at age 40, and studies of the material showed abundant fibroblasts in a fibrous stromal tissue with foci of calcification surrounded by a thick fibrous layer and a subtle fibroblast layer. The other patient had healing problems after extraction of wisdom teeth. Radiologic studies showed a cotton-wool-like pattern of the bony structure of the mandible, and biopsy showed similar histologic findings to the first patient. Other family members had similar features, including sclerosis of the jawbones, purulent osteomyelitis, and spontaneous fractures with slow healing. </p>
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</span>
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<div>
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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>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of GDD in the family reported by Marconi et al. (2013) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis of the Japanese family with GDD reported by Akasaka et al. (1969), Tsutsumi et al. (2003) mapped the disease locus to an 8.7-cM interval on 11p15.1-p14.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tsutsumi et al. (2003) found no mutations in 8 genes shown by genome sequence data to be located in the GDD critical region. In a further search for GDD candidate genes, Tsutsumi et al. (2004) investigated uncharacterized ESTs that mapped to the critical region. One of these represented a novel gene (ANO5), which they designated GDD1. Screening of GDD1 DNA in the Japanese family of Akasaka et al. (1969) revealed that 14 affected members were heterozygous for a missense mutation in exon 11 (608662.0001). A different missense mutation in the same codon (608662.0002) was found in 2 affected members of a family of African American origin with GDD. </p><p>Marconi et al. (2013) identified a heterozygous missense mutation in the ANO5 gene (608662.0009) in affected members of an Italian family with GDD. The mutation segregated with the disorder in the family and was not found in several large control databases. Functional studies were not performed. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akasaka, Y., Nakajima, T., Koyama, K., Furuya, K., Mitsuka, Y.
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<strong>Familial cases of new systemic bone disease, hereditary gnatho-diaphyseal sclerosis.</strong>
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Nippon Seikeigeka Gakkai Zasshi 43: 381-394, 1969.
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[PubMed: 5816667]
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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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Colavita, N., Kozlowski, K., La Vecchia, G., Fileni, A., Ricci, R.
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<strong>Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws: report of a case.</strong>
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Australas Radiol. 28: 226-231, 1984.
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[PubMed: 6517811]
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[Full Text: https://doi.org/10.1111/j.1440-1673.1984.tb02511.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L.
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<strong>Osteogenesis imperfecta with unusual skeletal lesions: report of three families.</strong>
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Am. J. Med. Genet. 21: 257-269, 1985.
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[PubMed: 4014312]
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[Full Text: https://doi.org/10.1002/ajmg.1320210207]
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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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Marconi, C., Brunamonti Binello, P., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P., Seri, M.
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<strong>A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree.</strong>
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Europ. J. Hum. Genet. 21: 613-619, 2013.
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[PubMed: 23047743]
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[Full Text: https://doi.org/10.1038/ejhg.2012.224]
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</li>
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<p class="mim-text-font">
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Nishimura, G., Haga, N., Ikeuchi, S., Yamaguchi, T., Aoki, K., Yamato, M.
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<strong>Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature.</strong>
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Skeletal Radiol. 25: 717-722, 1996.
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[PubMed: 8958616]
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[Full Text: https://doi.org/10.1007/s002560050167]
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</li>
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<li>
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<p class="mim-text-font">
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Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Makitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., and 11 others.
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<strong>Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.</strong>
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JCI Insight 4: e126180, 2019. Note: Electronic Article.
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[PubMed: 30779713]
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[Full Text: https://doi.org/10.1172/jci.insight.126180]
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</li>
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<li>
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<p class="mim-text-font">
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Riminucci, M., Collins, M. T., Corsi, A., Boyde, A., Murphey, M. D., Wientroub, S., Kuznetsov, S. A., Cherman, N., Robey, P. G., Bianco, P.
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<strong>Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing.</strong>
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J. Bone Miner. Res. 16: 1710-1718, 2001.
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[PubMed: 11547842]
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[Full Text: https://doi.org/10.1359/jbmr.2001.16.9.1710]
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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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Tsutsumi, S., Kamata, N., Maruoka, Y., Ando, M., Tezuka, O., Enomoto, S., Omura, K., Nagayama, M., Kudo, E., Moritani, M., Yamaoka, T., Itakura, M.
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<strong>Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.</strong>
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J. Bone Miner. Res. 18: 413-418, 2003.
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[PubMed: 12619924]
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[Full Text: https://doi.org/10.1359/jbmr.2003.18.3.413]
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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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Tsutsumi, S., Kamata, N., Vokes, T. J., Maruoka, Y., Nakakuki, K., Enomoto, S., Omura, K., Amagasa, T., Nagayama, M., Saito-Ohara, F., Inazawa, J., Moritani, M., Yamaoka, T., Inoue, H., Itakura, M.
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<strong>The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).</strong>
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Am. J. Hum. Genet. 74: 1255-1261, 2004.
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[PubMed: 15124103]
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[Full Text: https://doi.org/10.1086/421527]
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/12/2013<br>Victor A. McKusick - updated : 5/26/2004<br>Victor A. McKusick - updated : 6/5/1997
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</span>
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