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Entry
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- #249700 - LANGER MESOMELIC DYSPLASIA; LMD
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- OMIM
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<p>
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<span class="h4">#249700</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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<li role="presentation">
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<a href="/clinicalSynopsis/249700"><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="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=LANGER MESOMELIC DYSPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2409&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/4083" 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/langer-mesomelic-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=249700[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=2632" 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/eaae4a99-e391-475f-9b72-834cc5c9ae8e/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="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://omia.org/OMIA002013/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:249700" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 38494008<br />
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<strong>ORPHA:</strong> 2632<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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249700
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LANGER MESOMELIC DYSPLASIA; LMD
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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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DYSCHONDROSTEOSIS, HOMOZYGOUS<br />
|
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MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE
|
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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>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<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/X/14?start=-3&limit=10&highlight=14">
|
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Xp22.33
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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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Langer mesomelic 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/249700"> 249700 </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Pseudoautosomal recessive">PR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SHOX
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312865"> 312865 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/Y/4?start=-3&limit=10&highlight=4">
|
|
Yp11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Langer mesomelic dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/249700"> 249700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Pseudoautosomal recessive">PR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SHOXY
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/400020"> 400020 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/249700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/249700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/249700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Pseudoautosomal recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746843</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, disproportionate mesomelic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008845</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008845</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mesomelia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549306</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003027</a>]</span><br /> -
|
|
Short, broad ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5233802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5233802</a>]</span><br /> -
|
|
Dorsolateral bowed, short radii <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855276</a>]</span><br /> -
|
|
Short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836184</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span><br /> -
|
|
Marked shortening of tibia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806516</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005766</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005766</a>]</span><br /> -
|
|
Laterally angulated tibia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855278</a>]</span><br /> -
|
|
Rudimentary fibula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006381</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Madelung deformity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4530000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4530000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152441</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003067</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- LMD is the homozygous form of the less severe Leri-Weill dyschondrosteosis (<a href="/entry/127300">127300</a>)<br /> -
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- Caused by mutation in the short stature homeobox gene (SHOX, <a href="/entry/312865#0003">312865.0003</a>)<br />
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<p>A number sign (#) is used with this entry because Langer mesomelic dysplasia is caused by a homozygous defect in the pseudoautosomal genes SHOX (<a href="/entry/312865">312865</a>) or SHOXY (<a href="/entry/400020">400020</a>).</p><p>Because the mutation occurs in the pseudoautosomal region of the sex chromosomes, the inheritance of this disorder follows an autosomal (pseudoautosomal) recessive pattern.</p>
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<p>Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (<a href="#14" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.</strong> Radiology 89: 654-660, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6059604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6059604</a>] [<a href="https://doi.org/10.1148/89.4.654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6059604">Langer, 1967</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6059604" 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>See also Leri-Weill dyschondrosteosis (<a href="/entry/127300">127300</a>), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.</p>
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<p><a href="#5" class="mim-tip-reference" title="Book, J. A. <strong>A clinical and genetical study of disturbed skeletal growth (chondrohypoplasia).</strong> Hereditas 36: 161-180, 1950."None>Book (1950)</a> reported an affected kindred from northern Sweden in which the parents of the proband were first cousins. Heterozygotes in this kindred were short (the father was 160 cm and the mother 150 cm) and had relatively short fingers and broad hands, but otherwise were not strikingly abnormal. 'Chondrohypoplasia' was the designation Book used for the heterozygotes. <a href="#5" class="mim-tip-reference" title="Book, J. A. <strong>A clinical and genetical study of disturbed skeletal growth (chondrohypoplasia).</strong> Hereditas 36: 161-180, 1950."None>Book (1950)</a> thought the disorder most closely resembled that in the family reported by <a href="#6" class="mim-tip-reference" title="Brailsford, J. F. <strong>Dystrophies of the skeleton.</strong> Brit. J. Radiol. 8: 533-569, 1935."None>Brailsford (1935)</a>, in which children of normal but short parents were affected.</p><p><a href="#4" class="mim-tip-reference" title="Blockey, N. J., Lawrie, J. H. <strong>An unusual symmetrical distal limb deformity in siblings.</strong> J. Bone Joint Surg. Br. 45: 745-747, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14074326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14074326</a>]" pmid="14074326">Blockey and Lawrie (1963)</a> described affected brother and sister, the offspring of normal parents; there was no mention of parental consanguinity. The authors, probably mistakenly, considered their cases instances of Nievergelt syndrome (<a href="/entry/163400">163400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14074326" 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="#14" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.</strong> Radiology 89: 654-660, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6059604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6059604</a>] [<a href="https://doi.org/10.1148/89.4.654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6059604">Langer (1967)</a> studied 2 cases and referred to the entity as 'mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.' Hypoplasia of the mandible was a feature not emphasized in other reports. Mesomelic is a nonspecific term which refers to shortening most striking in the forearm and lower leg. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6059604" 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="#7" class="mim-tip-reference" title="Espiritu, C., Chen, H., Woolley, P. V., Jr. <strong>Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.</strong> Am. J. Dis. Child. 129: 375-377, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1121969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1121969</a>] [<a href="https://doi.org/10.1001/archpedi.1975.02120400075020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1121969">Espiritu et al. (1975)</a> suggested that the Langer mesomelic phenotype may result from homozygosity for the Leri-Weill dyschondrosteosis gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1121969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male newborn with typical Langer type of mesomelic dwarfism, <a href="#10" class="mim-tip-reference" title="Fryns, J. P., Van den Berghe, H. <strong>Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.</strong> Hum. Genet. 46: 21-27, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/429003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">429003</a>] [<a href="https://doi.org/10.1007/BF00278898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="429003">Fryns and Van den Berghe (1979)</a> found a variable degree of Madelung deformity and mesomelic shortening in both parents and in the mother's family, providing support for the hypothesis that this type of mesomelic dwarfism is the clinical manifestation of a homozygous state for dyschondrosteosis. This hypothesis was further strengthened by the report of <a href="#13" class="mim-tip-reference" title="Kunze, J., Klemm, T. <strong>Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.</strong> Europ. J. Pediat. 134: 269-272, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7428776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7428776</a>] [<a href="https://doi.org/10.1007/BF00441485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7428776">Kunze and Klemm (1980)</a>, in which both parents of an affected female had signs of dyschondrosteosis, including Madelung deformity. The parents were apparently unrelated Turks. The authors had information on yet 2 other instances of Langer mesomelic dysplasia with dyschondrosteosis in both parents. <a href="#12" class="mim-tip-reference" title="Jones, M. C., Pickney, L. E. <strong>Mesomelic dysplasia of Langer: relationship to dyschondrosteosis.</strong> David W. Smith Workshop on Dysmorphology, Vancouver, BC 1983."None>Jones and Pickney (1983)</a> also observed a case of Langer mesomelic dysplasia in which both parents had subtle signs of dyschondrosteosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7428776+429003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P. <strong>Heterozygous manifestations of Langer mesomelic dysplasia.</strong> Clin. Genet. 31: 19-24, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3568430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3568430</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02762.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3568430">Goldblatt et al. (1987)</a> reported a case of Langer mesomelic dysplasia with a mild deformity of the forearms similar to, but different from, Madelung deformity in the families of both the father and mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3568430" 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="Evans, M. I., Zador, I. E., Qureshi, F., Budev, H., Quigg, M. H., Nadler, H. L. <strong>Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.</strong> Am. J. Med. Genet. 31: 915-920, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3071136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3071136</a>] [<a href="https://doi.org/10.1002/ajmg.1320310426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3071136">Evans et al. (1988)</a> demonstrated that Langer mesomelic dwarfism can be diagnosed in the second trimester by sonography. They also reported the pathologic changes in a second trimester abortion case. This was from an at-risk pregnancy of a mother with the Madelung deformity of dyschondrosteosis and an earlier-born offspring with Langer mesomelic dwarfism. The status of the father was unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3071136" 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="#2" class="mim-tip-reference" title="Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong> Nature Genet. 19: 67-69, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>] [<a href="https://doi.org/10.1038/ng0198-67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590292">Belin et al. (1998)</a> described a family in which 4 individuals in 2 generations had Leri-Weill dyschondrosteosis (LWD; <a href="/entry/127300">127300</a>) associated with heterozygous deletion of the pseudoautosomal gene SHOX (<a href="/entry/312865#0003">312865.0003</a>). A woman in this family with classic LWD was the mother of a fetus that inherited her deletion of SHOX; a second event, Turner syndrome, resulted in the absence of the SHOX allele on the paternal X chromosome. Deletion of both SHOX alleles in the fetus caused Langer mesomelic dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590292" 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="#15" class="mim-tip-reference" title="Robertson, S. P., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., Savarirayan, R. <strong>Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.</strong> J. Med. Genet. 37: 959-964, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186941</a>] [<a href="https://doi.org/10.1136/jmg.37.12.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186941">Robertson et al. (2000)</a> reported a mentally retarded male with Langer mesomelic dysplasia who had inherited a SHOX deletion from each parent, both of whom had the dyschondrosteosis phenotype. The deletions did not extend into the X-specific region, and the authors concluded that the mental retardation in this case might be explained by a pseudoautosomal mental retardation locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186941" 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="#18" class="mim-tip-reference" title="Thomas, N. S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B. <strong>SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.</strong> Am. J. Med. Genet. 128A: 179-184, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214013</a>] [<a href="https://doi.org/10.1002/ajmg.a.30095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15214013">Thomas et al. (2004)</a> described a family in which several members and a fetus had mutations in the SHOX gene. The grandmother, mother, and uncle all carried an approximately 200-kb interstitial deletion that included the entire SHOX gene. Their condition was mild, with no Madelung deformity, and was originally diagnosed as hypochondroplasia. This deletion was transmitted to the fetus, who inherited an additional Xp deletion (Xpter-Xp22.12) that included the SHOX gene from her chromosomally normal father. The ultrasound scan of the fetus and subsequent autopsy findings were consistent with Langer mesomelic dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15214013" 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="Bertorelli, R., Capone, L., Ambrosetti, F., Garavelli, L., Varriale, L., Mazza, V., Stanghellini, I., Percesepe, A., Forabosco, A. <strong>The homozygous deletion of the 3-prime enhancer of the SHOX gene causes Langer mesomelic dysplasia. (Letter)</strong> Clin. Genet. 72: 490-491, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935511</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00875.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935511">Bertorelli et al. (2007)</a> reported a fetus, conceived of consanguineous parents, with Langer mesomelic dysplasia resulting from a homozygous deletion extending from exon 6b of the SHOX gene downstream for 1.1 Mb and encompassing a cis-acting enhancer region (<a href="/entry/312865#0013">312865.0013</a>). Both parents, who were heterozygous for the mutation, had Leri-Weill syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals with LWD or LMD from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al. (<a href="#16" class="mim-tip-reference" title="Sabherwal, N., Blaschke, R. J., Marchini, A., Heine-Suner, D., Rosell, J., Ferragut, J., Blum, W. F., Rappold, G. <strong>A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia.</strong> J. Med. Genet. 41: e83, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173249</a>] [<a href="https://doi.org/10.1136/jmg.2003.016402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173249">2004</a>, <a href="#17" class="mim-tip-reference" title="Sabherwal, N., Schneider, K. U., Blaschke, R. J., Marchini, A., Rappold, G. <strong>Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome.</strong> J. Cell Sci. 117: 3041-3048, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173321</a>] [<a href="https://doi.org/10.1242/jcs.01152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173321">2004</a>)), <a href="#1" class="mim-tip-reference" title="Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E. <strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong> Europ. J. Hum. Genet. 19: 1218-1225, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21712857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21712857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21712857[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.2011.128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21712857">Barca-Tierno et al. (2011)</a> identified heterozygosity or homozygosity, respectively, for an A170P mutation (<a href="/entry/312865#0014">312865.0014</a>) in the SHOX gene. In all families, A170P cosegregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21712857+15173249+15173321" 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="#9" class="mim-tip-reference" title="Fryns, J. P. <strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong> Clin. Genet. 48: 111-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04067.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586651">Fryns (1995)</a> described a 15-year-old normally intelligent male who appeared to have both the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES; <a href="/entry/110100">110100</a>) and disproportionate dwarfism with marked shortening of the middle segments of the extremities with mandibular hypoplasia. Radiologic changes were consistent with the clinical diagnosis of Langer type mesomelic dwarfism. The karyotype was a 46,XY normal male. <a href="#9" class="mim-tip-reference" title="Fryns, J. P. <strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong> Clin. Genet. 48: 111-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04067.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586651">Fryns (1995)</a> suggested that the patient had a contiguous gene deletion syndrome, undetectable at the resolution of available cytogenetic techniques, involving 3q22.3-q23, where BPES is known to map, and also suggested that the locus for Langer mesomelic dwarfism is located in the same region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586651" 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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Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E.
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<strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong>
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Europ. J. Hum. Genet. 19: 1218-1225, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21712857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21712857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21712857[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=21712857" 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.2011.128" target="_blank">Full Text</a>]
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Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590292" 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/ng0198-67" target="_blank">Full Text</a>]
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Bertorelli, R., Capone, L., Ambrosetti, F., Garavelli, L., Varriale, L., Mazza, V., Stanghellini, I., Percesepe, A., Forabosco, A.
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<strong>The homozygous deletion of the 3-prime enhancer of the SHOX gene causes Langer mesomelic dysplasia. (Letter)</strong>
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Clin. Genet. 72: 490-491, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935511" 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.1399-0004.2007.00875.x" target="_blank">Full Text</a>]
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<strong>A clinical and genetical study of disturbed skeletal growth (chondrohypoplasia).</strong>
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Hereditas 36: 161-180, 1950.
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Brailsford, J. F.
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<strong>Dystrophies of the skeleton.</strong>
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Brit. J. Radiol. 8: 533-569, 1935.
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Espiritu, C., Chen, H., Woolley, P. V., Jr.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1121969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1121969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1121969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1975.02120400075020" target="_blank">Full Text</a>]
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Evans, M. I., Zador, I. E., Qureshi, F., Budev, H., Quigg, M. H., Nadler, H. L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3071136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3071136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3071136" 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.1320310426" target="_blank">Full Text</a>]
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<a id="Fryns1995" class="mim-anchor"></a>
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Fryns, J. P.
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<strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong>
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Clin. Genet. 48: 111-112, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586651" 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.1399-0004.1995.tb04067.x" target="_blank">Full Text</a>]
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<a id="Fryns1979" class="mim-anchor"></a>
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Fryns, J. P., Van den Berghe, H.
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<strong>Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.</strong>
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Hum. Genet. 46: 21-27, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/429003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">429003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=429003" 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/BF00278898" target="_blank">Full Text</a>]
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Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P.
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<strong>Heterozygous manifestations of Langer mesomelic dysplasia.</strong>
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Clin. Genet. 31: 19-24, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3568430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3568430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3568430" 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.1399-0004.1987.tb02762.x" target="_blank">Full Text</a>]
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</li>
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<a id="12" class="mim-anchor"></a>
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<a id="Jones1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jones, M. C., Pickney, L. E.
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<strong>Mesomelic dysplasia of Langer: relationship to dyschondrosteosis.</strong>
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David W. Smith Workshop on Dysmorphology, Vancouver, BC 1983.
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Kunze1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kunze, J., Klemm, T.
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<strong>Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.</strong>
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Europ. J. Pediat. 134: 269-272, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7428776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7428776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7428776" 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/BF00441485" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Langer1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Langer, L. O., Jr.
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<strong>Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.</strong>
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Radiology 89: 654-660, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6059604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6059604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6059604" 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/10.1148/89.4.654" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Robertson2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robertson, S. P., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., Savarirayan, R.
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<strong>Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.</strong>
|
|
J. Med. Genet. 37: 959-964, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186941" 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/10.1136/jmg.37.12.959" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Sabherwal2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sabherwal, N., Blaschke, R. J., Marchini, A., Heine-Suner, D., Rosell, J., Ferragut, J., Blum, W. F., Rappold, G.
|
|
<strong>A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia.</strong>
|
|
J. Med. Genet. 41: e83, 2004. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173249" 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/10.1136/jmg.2003.016402" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Sabherwal2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sabherwal, N., Schneider, K. U., Blaschke, R. J., Marchini, A., Rappold, G.
|
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<strong>Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome.</strong>
|
|
J. Cell Sci. 117: 3041-3048, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173321" 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/10.1242/jcs.01152" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Thomas2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomas, N. S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B.
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<strong>SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.</strong>
|
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Am. J. Med. Genet. 128A: 179-184, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15214013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30095" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Marla J. F. O'Neill - updated : 1/10/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 8/22/2008<br>Marla J. F. O'Neill - updated : 9/1/2004<br>Michael J. Wright - updated : 2/9/2001<br>Victor A. McKusick - updated : 4/27/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 6/4/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 09/09/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 01/13/2012<br>terry : 1/10/2012<br>terry : 1/14/2011<br>carol : 11/24/2010<br>ckniffin : 10/15/2009<br>wwang : 9/2/2008<br>ckniffin : 8/22/2008<br>carol : 9/2/2004<br>terry : 9/1/2004<br>terry : 6/6/2001<br>alopez : 2/9/2001<br>terry : 2/8/2000<br>carol : 11/15/1999<br>carol : 11/1/1999<br>carol : 11/1/1999<br>alopez : 4/28/1998<br>terry : 4/27/1998<br>mark : 9/19/1995<br>warfield : 3/9/1994<br>mimadm : 2/19/1994<br>carol : 10/1/1992<br>supermim : 3/17/1992<br>supermim : 3/20/1990
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</span>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 249700
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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LANGER MESOMELIC DYSPLASIA; LMD
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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DYSCHONDROSTEOSIS, HOMOZYGOUS<br />
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MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE
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</span>
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</h4>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 38494008;
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<strong>ORPHA:</strong> 2632;
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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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<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 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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Xp22.33
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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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Langer mesomelic 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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249700
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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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Pseudoautosomal recessive
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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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3
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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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SHOX
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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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312865
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<tr>
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<td>
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<span class="mim-font">
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Yp11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Langer mesomelic 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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249700
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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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Pseudoautosomal recessive
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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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3
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</td>
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<td>
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<span class="mim-font">
|
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SHOXY
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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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400020
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Langer mesomelic dysplasia is caused by a homozygous defect in the pseudoautosomal genes SHOX (312865) or SHOXY (400020).</p><p>Because the mutation occurs in the pseudoautosomal region of the sex chromosomes, the inheritance of this disorder follows an autosomal (pseudoautosomal) recessive pattern.</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>Description</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>Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). </p><p>See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.</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>Clinical Features</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>Book (1950) reported an affected kindred from northern Sweden in which the parents of the proband were first cousins. Heterozygotes in this kindred were short (the father was 160 cm and the mother 150 cm) and had relatively short fingers and broad hands, but otherwise were not strikingly abnormal. 'Chondrohypoplasia' was the designation Book used for the heterozygotes. Book (1950) thought the disorder most closely resembled that in the family reported by Brailsford (1935), in which children of normal but short parents were affected.</p><p>Blockey and Lawrie (1963) described affected brother and sister, the offspring of normal parents; there was no mention of parental consanguinity. The authors, probably mistakenly, considered their cases instances of Nievergelt syndrome (163400). </p><p>Langer (1967) studied 2 cases and referred to the entity as 'mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.' Hypoplasia of the mandible was a feature not emphasized in other reports. Mesomelic is a nonspecific term which refers to shortening most striking in the forearm and lower leg. </p>
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<strong>Inheritance</strong>
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<p>Espiritu et al. (1975) suggested that the Langer mesomelic phenotype may result from homozygosity for the Leri-Weill dyschondrosteosis gene. </p><p>In a male newborn with typical Langer type of mesomelic dwarfism, Fryns and Van den Berghe (1979) found a variable degree of Madelung deformity and mesomelic shortening in both parents and in the mother's family, providing support for the hypothesis that this type of mesomelic dwarfism is the clinical manifestation of a homozygous state for dyschondrosteosis. This hypothesis was further strengthened by the report of Kunze and Klemm (1980), in which both parents of an affected female had signs of dyschondrosteosis, including Madelung deformity. The parents were apparently unrelated Turks. The authors had information on yet 2 other instances of Langer mesomelic dysplasia with dyschondrosteosis in both parents. Jones and Pickney (1983) also observed a case of Langer mesomelic dysplasia in which both parents had subtle signs of dyschondrosteosis. </p><p>Goldblatt et al. (1987) reported a case of Langer mesomelic dysplasia with a mild deformity of the forearms similar to, but different from, Madelung deformity in the families of both the father and mother. </p>
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<strong>Diagnosis</strong>
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<p>Evans et al. (1988) demonstrated that Langer mesomelic dwarfism can be diagnosed in the second trimester by sonography. They also reported the pathologic changes in a second trimester abortion case. This was from an at-risk pregnancy of a mother with the Madelung deformity of dyschondrosteosis and an earlier-born offspring with Langer mesomelic dwarfism. The status of the father was unknown. </p>
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<strong>Molecular Genetics</strong>
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<p>Belin et al. (1998) described a family in which 4 individuals in 2 generations had Leri-Weill dyschondrosteosis (LWD; 127300) associated with heterozygous deletion of the pseudoautosomal gene SHOX (312865.0003). A woman in this family with classic LWD was the mother of a fetus that inherited her deletion of SHOX; a second event, Turner syndrome, resulted in the absence of the SHOX allele on the paternal X chromosome. Deletion of both SHOX alleles in the fetus caused Langer mesomelic dysplasia. </p><p>Robertson et al. (2000) reported a mentally retarded male with Langer mesomelic dysplasia who had inherited a SHOX deletion from each parent, both of whom had the dyschondrosteosis phenotype. The deletions did not extend into the X-specific region, and the authors concluded that the mental retardation in this case might be explained by a pseudoautosomal mental retardation locus. </p><p>Thomas et al. (2004) described a family in which several members and a fetus had mutations in the SHOX gene. The grandmother, mother, and uncle all carried an approximately 200-kb interstitial deletion that included the entire SHOX gene. Their condition was mild, with no Madelung deformity, and was originally diagnosed as hypochondroplasia. This deletion was transmitted to the fetus, who inherited an additional Xp deletion (Xpter-Xp22.12) that included the SHOX gene from her chromosomally normal father. The ultrasound scan of the fetus and subsequent autopsy findings were consistent with Langer mesomelic dysplasia. </p><p>Bertorelli et al. (2007) reported a fetus, conceived of consanguineous parents, with Langer mesomelic dysplasia resulting from a homozygous deletion extending from exon 6b of the SHOX gene downstream for 1.1 Mb and encompassing a cis-acting enhancer region (312865.0013). Both parents, who were heterozygous for the mutation, had Leri-Weill syndrome. </p><p>In affected individuals with LWD or LMD from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al. (2004, 2004)), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for an A170P mutation (312865.0014) in the SHOX gene. In all families, A170P cosegregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. </p>
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<strong>Cytogenetics</strong>
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<p>Fryns (1995) described a 15-year-old normally intelligent male who appeared to have both the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES; 110100) and disproportionate dwarfism with marked shortening of the middle segments of the extremities with mandibular hypoplasia. Radiologic changes were consistent with the clinical diagnosis of Langer type mesomelic dwarfism. The karyotype was a 46,XY normal male. Fryns (1995) suggested that the patient had a contiguous gene deletion syndrome, undetectable at the resolution of available cytogenetic techniques, involving 3q22.3-q23, where BPES is known to map, and also suggested that the locus for Langer mesomelic dwarfism is located in the same region. </p>
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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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<p />
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</div>
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<ol>
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Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E.
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<strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong>
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Europ. J. Hum. Genet. 19: 1218-1225, 2011.
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[PubMed: 21712857]
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[Full Text: https://doi.org/10.1038/ejhg.2011.128]
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<li>
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<p class="mim-text-font">
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Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V.
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<strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong>
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Nature Genet. 19: 67-69, 1998.
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<p class="mim-text-font">
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Bertorelli, R., Capone, L., Ambrosetti, F., Garavelli, L., Varriale, L., Mazza, V., Stanghellini, I., Percesepe, A., Forabosco, A.
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<strong>The homozygous deletion of the 3-prime enhancer of the SHOX gene causes Langer mesomelic dysplasia. (Letter)</strong>
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Clin. Genet. 72: 490-491, 2007.
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[PubMed: 17935511]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00875.x]
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</p>
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<li>
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<p class="mim-text-font">
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Blockey, N. J., Lawrie, J. H.
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<strong>An unusual symmetrical distal limb deformity in siblings.</strong>
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J. Bone Joint Surg. Br. 45: 745-747, 1963.
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[PubMed: 14074326]
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<p class="mim-text-font">
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Book, J. A.
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<strong>A clinical and genetical study of disturbed skeletal growth (chondrohypoplasia).</strong>
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Hereditas 36: 161-180, 1950.
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Brailsford, J. F.
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<strong>Dystrophies of the skeleton.</strong>
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Brit. J. Radiol. 8: 533-569, 1935.
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Espiritu, C., Chen, H., Woolley, P. V., Jr.
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<strong>Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.</strong>
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Am. J. Dis. Child. 129: 375-377, 1975.
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[PubMed: 1121969]
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[Full Text: https://doi.org/10.1001/archpedi.1975.02120400075020]
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</p>
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Evans, M. I., Zador, I. E., Qureshi, F., Budev, H., Quigg, M. H., Nadler, H. L.
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<strong>Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.</strong>
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Am. J. Med. Genet. 31: 915-920, 1988.
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Fryns, J. P.
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<strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong>
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Clin. Genet. 48: 111-112, 1995.
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[PubMed: 7586651]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04067.x]
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<p class="mim-text-font">
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Fryns, J. P., Van den Berghe, H.
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<strong>Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.</strong>
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Hum. Genet. 46: 21-27, 1979.
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[PubMed: 429003]
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[Full Text: https://doi.org/10.1007/BF00278898]
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Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P.
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<strong>Heterozygous manifestations of Langer mesomelic dysplasia.</strong>
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Clin. Genet. 31: 19-24, 1987.
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[PubMed: 3568430]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02762.x]
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Jones, M. C., Pickney, L. E.
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<strong>Mesomelic dysplasia of Langer: relationship to dyschondrosteosis.</strong>
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David W. Smith Workshop on Dysmorphology, Vancouver, BC 1983.
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Kunze, J., Klemm, T.
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<strong>Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.</strong>
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Europ. J. Pediat. 134: 269-272, 1980.
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Langer, L. O., Jr.
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<strong>Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.</strong>
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Radiology 89: 654-660, 1967.
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[PubMed: 6059604]
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[Full Text: https://doi.org/10.1148/89.4.654]
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Robertson, S. P., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., Savarirayan, R.
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<strong>Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.</strong>
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J. Med. Genet. 37: 959-964, 2000.
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[PubMed: 11186941]
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[Full Text: https://doi.org/10.1136/jmg.37.12.959]
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Sabherwal, N., Blaschke, R. J., Marchini, A., Heine-Suner, D., Rosell, J., Ferragut, J., Blum, W. F., Rappold, G.
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<strong>A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia.</strong>
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J. Med. Genet. 41: e83, 2004. Note: Electronic Article.
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[PubMed: 15173249]
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[Full Text: https://doi.org/10.1136/jmg.2003.016402]
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Sabherwal, N., Schneider, K. U., Blaschke, R. J., Marchini, A., Rappold, G.
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<strong>Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome.</strong>
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J. Cell Sci. 117: 3041-3048, 2004.
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[PubMed: 15173321]
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[Full Text: https://doi.org/10.1242/jcs.01152]
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Thomas, N. S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B.
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<strong>SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.</strong>
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Am. J. Med. Genet. 128A: 179-184, 2004.
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[PubMed: 15214013]
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[Full Text: https://doi.org/10.1002/ajmg.a.30095]
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Marla J. F. O'Neill - updated : 1/10/2012<br>Cassandra L. Kniffin - updated : 8/22/2008<br>Marla J. F. O'Neill - updated : 9/1/2004<br>Michael J. Wright - updated : 2/9/2001<br>Victor A. McKusick - updated : 4/27/1998
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carol : 09/09/2016<br>carol : 01/13/2012<br>terry : 1/10/2012<br>terry : 1/14/2011<br>carol : 11/24/2010<br>ckniffin : 10/15/2009<br>wwang : 9/2/2008<br>ckniffin : 8/22/2008<br>carol : 9/2/2004<br>terry : 9/1/2004<br>terry : 6/6/2001<br>alopez : 2/9/2001<br>terry : 2/8/2000<br>carol : 11/15/1999<br>carol : 11/1/1999<br>carol : 11/1/1999<br>alopez : 4/28/1998<br>terry : 4/27/1998<br>mark : 9/19/1995<br>warfield : 3/9/1994<br>mimadm : 2/19/1994<br>carol : 10/1/1992<br>supermim : 3/17/1992<br>supermim : 3/20/1990
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