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<title>
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Entry
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- #113000 - BRACHYDACTYLY, TYPE B1; BDB1
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- OMIM
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<span class="h4">#113000</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div><a href="https://www.diseaseinfosearch.org/x/7857" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=113000[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=572385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Brachydactyly type B1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Brachydactyly type B</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/522dfd74-7a29-44ff-9885-e3eebe8fe979/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110969" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/113000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002223/" 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><a href="https://wormbase.org/resources/disease/DOID:0110969" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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 href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 572385, 93383<br />
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<strong>DO:</strong> 0110969<br />
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">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
113000
|
|
</span>
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</span>
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</div>
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</div>
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
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|
BRACHYDACTYLY, TYPE B1; BDB1
|
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|
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
BRACHYDACTYLY, TYPE B; BDB
|
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</span>
|
|
</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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/300?start=-3&limit=10&highlight=300">
|
|
9q22.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Brachydactyly, type B1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113000"> 113000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ROR2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602337"> 602337 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/113000" 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/113000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/113000" 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">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic/aplastic distal phalanges (fingers 2-5) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009835</a>]</span><br /> -
|
|
Hypoplastic middle phalanges (fingers 2-5) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005819</a>]</span><br /> -
|
|
Symphalangism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253975004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253975004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a>, <a href="https://bioportal.bioontology.org/search?q=C5848178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span><br /> -
|
|
Broad thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span><br /> -
|
|
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" 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 /> -
|
|
Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" 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>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic/aplastic distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009835</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009835</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cutaneous syndactyly (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
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- Hypoplastic/aplastic fingernails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862126</a>]</span><br />
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- Allelic to Robinow syndrome, autosomal recessive (<a href="/entry/268310">268310</a>)<br />
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- Caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, <a href="/entry/602337#0001">602337.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that brachydactyly type B1 (BDB1) is caused by heterozygous mutation in the ROR2 gene (<a href="/entry/602337">602337</a>) on chromosome 9q22.</p><p>Autosomal recessive Robinow syndrome (RRS; <a href="/entry/268310">268310</a>) is an allelic disorder; see also <a href="/entry/268310">268310</a> for RRS with severe malformations of the hands and feet.</p>
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<p>Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by <a href="#10" class="mim-tip-reference" title="Lv, D., Luo, Y., Yang, W., Cao, L., Wen, Y., Zhao, X., Sun, M., Lo, W. H.-Y., Zhang, X. <strong>A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.</strong> J. Hum. Genet. 54: 422-425, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19461659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19461659</a>] [<a href="https://doi.org/10.1038/jhg.2009.48" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19461659">Lv et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19461659" 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>Involvement of the distal phalanges and the association of nail aplasia distinguishes type B brachydactyly, which is said (<a href="#5" class="mim-tip-reference" title="Gong, Y., Chitayat, D., Kerr, B., Chen, T., Babul-Hirji, R., Pal, A., Reiss, M., Warman, M. L. <strong>Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.</strong> Am. J. Hum. Genet. 64: 570-577, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973295</a>] [<a href="https://doi.org/10.1086/302249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973295">Gong et al., 1999</a>) to have been the first of the heritable brachydactylies to be described in the medical literature (<a href="#7" class="mim-tip-reference" title="Kellie, D. R. <strong>Extract from a letter from Mr. L. to Dr Kellie, Leith.</strong> Edinburgh Med. Surg. J. 4: 252, 1808."None>Kellie, 1808</a>). In this form, as in the 4 A types, the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. This type of hand malformation presents the severest deformity in the brachydactyly group. Symphalangism is also a feature. There is also mild syndactyly between the digits, leading some authors to describe this deformity as symbrachydactyly. Syndactyly in the feet usually involves the second and third toes. <a href="#12" class="mim-tip-reference" title="MacKinder, D. <strong>Deficiency of fingers transmitted through six generations.</strong> Brit. Med. J. 1: 845-846, 1857."None>MacKinder (1857)</a> described this hand deformity in 6 generations. <a href="#11" class="mim-tip-reference" title="MacArthur, J. W., McCullough, E. <strong>Apical dystrophy as inherited defect of hands and feet.</strong> Hum. Biol. 4: 179-207, 1932."None>MacArthur and McCullough (1932)</a> described the same deformity in 3 generations and preferred the term 'apical dystrophy.' <a href="#4" class="mim-tip-reference" title="Goeminne, L., Agneessens, A., Kunnen, M. <strong>Perodactylie of apicale dystrofie: brachydactylie door hypofalangie II-V met bifide telefalangie I, in vijf generaties.</strong> Tijdschr. Geneeskunde 9: 469-472, 1970."None>Goeminne et al. (1970)</a> observed affected persons in 5 generations. <a href="#9" class="mim-tip-reference" title="Lenz, W. <strong>Comment.</strong> Birth Defects Orig. Art. Ser. XIII(1): 267-268, 1977."None>Lenz (1977)</a> made brief reference (with photographs) to peripheral defects simulating amniogenic ('constriction band') defects but distinct from those and from type B brachydactyly. Five persons in 4 generations were affected. Failing penetrance was observed in 2 persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973295" 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="#10" class="mim-tip-reference" title="Lv, D., Luo, Y., Yang, W., Cao, L., Wen, Y., Zhao, X., Sun, M., Lo, W. H.-Y., Zhang, X. <strong>A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.</strong> J. Hum. Genet. 54: 422-425, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19461659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19461659</a>] [<a href="https://doi.org/10.1038/jhg.2009.48" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19461659">Lv et al. (2009)</a> reported a large Chinese family in which multiple individuals had a severe form of type B brachydactyly showing autosomal dominant inheritance. Five affected individuals were studied in detail. The proband had hypoplastic distal phalanges of digits 2 through 5 of the hands and feet, and marked hypoplasia of the third toes. The 4 other affected individuals had bilateral syndactyly, marked hypoplastic distal phalanges and absent nails of fingers 2 and 5, and flat and broad thumbs. Three individuals had cutaneous syndactyly of fingers 3 and 4, 2 of whom also had toe syndactyly. Radiographic examination of the proband showed bifid distal phalanges of the thumbs, hypoplastic distal phalanges of fingers 2 and 4, with distal symphalangism of finger 2 and 3, absent distal phalanges of finger 5 and biphalangeal toes. <a href="#10" class="mim-tip-reference" title="Lv, D., Luo, Y., Yang, W., Cao, L., Wen, Y., Zhao, X., Sun, M., Lo, W. H.-Y., Zhang, X. <strong>A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.</strong> J. Hum. Genet. 54: 422-425, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19461659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19461659</a>] [<a href="https://doi.org/10.1038/jhg.2009.48" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19461659">Lv et al. (2009)</a> commented on the unusual cutaneous syndactyly phenotype in this family. Genetic analysis identified a heterozygous mutation in the ROR2 gene (2243delC; <a href="/entry/602337#0014">602337.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19461659" 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="#5" class="mim-tip-reference" title="Gong, Y., Chitayat, D., Kerr, B., Chen, T., Babul-Hirji, R., Pal, A., Reiss, M., Warman, M. L. <strong>Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.</strong> Am. J. Hum. Genet. 64: 570-577, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973295</a>] [<a href="https://doi.org/10.1086/302249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973295">Gong et al. (1999)</a> described 2 unrelated families with BDB: one English and the other Canadian but of English ancestry. In the Canadian family, they assigned the BDB locus to an 18-cM interval on 9q (lod score 3.5 at theta = 0.0 for marker D9S938). Markers across this interval also cosegregated with the BDB phenotype in the English family (lod score 2.1 at theta = 0.0 for marker D9S277). The authors found within this interval a 7.5-cM region that contained 10 contiguous markers whose disease-associated haplotype was shared by the 2 families, suggesting a common founder among families of English descent with BDB. <a href="#5" class="mim-tip-reference" title="Gong, Y., Chitayat, D., Kerr, B., Chen, T., Babul-Hirji, R., Pal, A., Reiss, M., Warman, M. L. <strong>Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.</strong> Am. J. Hum. Genet. 64: 570-577, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973295</a>] [<a href="https://doi.org/10.1086/302249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973295">Gong et al. (1999)</a> evaluated one candidate gene, that for type I transforming growth factor-beta receptor (<a href="/entry/190181">190181</a>), which maps to 9q33-q34, but identified no mutation in either family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973295" 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="Oldridge, M., Temple, I. K. Santos, H. G., Gibbons, R. J., Mustafa, Z., Chapman, K. E., Loughlin, J., Wilkie, A. O. M. <strong>Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 64: 578-585, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973296</a>] [<a href="https://doi.org/10.1086/302255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973296">Oldridge et al. (1999)</a> performed a genomewide linkage analysis of 3 families with BDB, 2 English and 1 Portuguese. The 2 English families showed linkage to the same region on chromosome 9 (combined multipoint maximum lod score = 8.69 with marker D9S257). The 16-cM disease interval was defined by recombinations with markers D9S1680 and D9S1786. These 2 families shared an identical disease haplotype over 18 markers, inclusive of D9S278-D9S280. This provided strong evidence that the English families had the same ancestral mutation, which reduced the disease interval to less than 12.7 cM between markers D9S257 and D9S1851 in chromosome band 9q22. In the Portuguese family, <a href="#15" class="mim-tip-reference" title="Oldridge, M., Temple, I. K. Santos, H. G., Gibbons, R. J., Mustafa, Z., Chapman, K. E., Loughlin, J., Wilkie, A. O. M. <strong>Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 64: 578-585, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973296</a>] [<a href="https://doi.org/10.1086/302255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973296">Oldridge et al. (1999)</a> excluded linkage to this region, a result indicating that BDB is genetically heterogeneous. Reflecting this, there were atypical clinical features in the Portuguese family, with shortening of the thumbs and absence or hypoplasia of the nails of the thumb and hallux. These results enabled a refined phenotypic classification of type B brachydactyly and identified a novel locus for digit morphogenesis in 9q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The ROR2 gene (<a href="/entry/602337">602337</a>) is localized in the region of 9q22 to which the BDB1 gene had been mapped. Furthermore, mice homozygous for an intragenic lacZ insertion into Ror2 were found by <a href="#3" class="mim-tip-reference" title="DeChiara, T. M., Kimble, R. B., Poueymirou, W. T., Rojas, J., Masiakowski, P., Valenzuela, D. M., Yancopoulos, G. D. <strong>Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.</strong> Nature Genet. 24: 271-274, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700181</a>] [<a href="https://doi.org/10.1038/73488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700181">DeChiara et al. (2000)</a> to have abnormal patterning of the digits and other skeletal defects. Ror2 maps to mouse chromosome 13 in a region of conserved synteny with human 9q (<a href="#13" class="mim-tip-reference" title="Oishi, I., Takeuchi, S., Hashimoto, R., Nagabukuro, A., Ueda, T., Liu, Z.-J., Hatta, T., Akira, S., Matsuda, Y., Yamamura, H., Otani, H., Minami, Y. <strong>Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.</strong> Genes Cells 4: 41-56, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231392</a>] [<a href="https://doi.org/10.1046/j.1365-2443.1999.00234.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231392">Oishi et al., 1999</a>). These observations prompted <a href="#14" class="mim-tip-reference" title="Oldridge, M., Fortuna, A. M., Maringa, M., Propping, P., Mansour, S., Pollitt, C., DeChiara, T. M., Kimble, R. B., Valenzuela, D. M., Yancopoulos, G. D., Wilkie, A. O. M. <strong>Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.</strong> Nature Genet. 24: 275-278, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700182</a>] [<a href="https://doi.org/10.1038/73495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700182">Oldridge et al. (2000)</a> to perform mutation analysis of the ROR2 gene in 3 unrelated families with BDB1. They identified distinct heterozygous mutations within a 7-amino acid segment of the 943-amino acid protein, all of which predicted truncation of the intracellular portion of protein immediately after the tyrosine kinase (TK) domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10700181+10231392+10700182" 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 5 families with BDB1, <a href="#16" class="mim-tip-reference" title="Schwabe, G. C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G., Oldridge, M., Wilkie, A. O. M., Komec, R., Mundlos, S. <strong>Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.</strong> Am. J. Hum. Genet. 67: 822-831, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10986040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10986040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10986040[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10986040">Schwabe et al. (2000)</a> found 4 novel mutations in the ROR2 gene: 2 frameshifts, 1 splice mutation, and 1 nonsense mutation. The mutations predicted truncation of the protein within 2 distinct regions immediately before and after the TK domain, resulting in a complete or partial loss of the intracellular portion of the protein. Patients with the distal mutations had a more severe phenotype than did those with the proximal mutations. In 1 of the BDB1 families with frameshift mutations (<a href="/entry/602337#0008">602337.0008</a>), <a href="#16" class="mim-tip-reference" title="Schwabe, G. C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G., Oldridge, M., Wilkie, A. O. M., Komec, R., Mundlos, S. <strong>Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.</strong> Am. J. Hum. Genet. 67: 822-831, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10986040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10986040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10986040[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10986040">Schwabe et al. (2000)</a> reported an individual, born of consanguineous parents with BDB1, who had a phenotype reminiscent of Robinow syndrome with aplasia/hypoplasia of the phalanges and metacarpals/metatarsals (see <a href="/entry/268310">268310</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10986040" 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="#6" class="mim-tip-reference" title="Hamamy, H., Saleh, N., Oldridge, M., Al-Hadidy, A., Ajlouni, K. <strong>Brachydactyly type B1: report of a family with de novo ROR2 mutation. (Letter)</strong> Clin. Genet. 70: 538-540, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101003</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00719.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17101003">Hamamy et al. (2006)</a> reported a Jordanian man with brachydactyly type B who had a heterozygous mutation in the ROR2 gene (<a href="/entry/602337#0001">602337.0001</a>). He had a severe form of the disease with classic brachydactyly and specific facial features, including prominent nose, high nasal bridge, hypoplastic alae nasi, and high-arched palate. His 3-year-old affected son also had the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17101003" 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 large Turkish family with brachydactyly type B1 and distal symphalangism of the fourth finger, <a href="#8" class="mim-tip-reference" title="Kjaer, K. W., Tiner, M., Cingoz, S., Karatosun, V., Tommerup, N., Mundlos, S., Gunal, I. <strong>A novel subtype of distal symphalangism affecting only the 4th finger. (Letter)</strong> Am. J. Med. Genet. 149A: 1571-1573, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533773</a>] [<a href="https://doi.org/10.1002/ajmg.a.32905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533773">Kjaer et al. (2009)</a> sequenced the ROR2, NOG (<a href="/entry/602991">602991</a>), and GDF5 (<a href="/entry/601146">601146</a>) genes and identified a truncating mutation in the ROR2 gene in 10 affected and 3 unaffected individuals. However, no mutations were detected in 3 individuals with isolated distal symphalangism of the fourth finger, which the authors designated 'DS2' (with 'DS1' representing distal symphalangism of the index finger, <a href="/entry/185700">185700</a>); they suggested that DS2 should be regarded as a separate genetic entity segregating in the family. <a href="#8" class="mim-tip-reference" title="Kjaer, K. W., Tiner, M., Cingoz, S., Karatosun, V., Tommerup, N., Mundlos, S., Gunal, I. <strong>A novel subtype of distal symphalangism affecting only the 4th finger. (Letter)</strong> Am. J. Med. Genet. 149A: 1571-1573, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533773</a>] [<a href="https://doi.org/10.1002/ajmg.a.32905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533773">Kjaer et al. (2009)</a> also noted that this family presented the mildest mutation-positive BDB1 phenotype reported to date, with 3 unaffected ROR2 mutation carriers and only 3 carriers with the typical BDB1 distal reductions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533773" 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="#17" class="mim-tip-reference" title="Sorsby, A. <strong>Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet.</strong> Brit. J. Ophthal. 19: 65-90, 1935.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18169256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18169256</a>] [<a href="https://doi.org/10.1136/bjo.19.2.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18169256">Sorsby (1935)</a> described the association of congenital coloboma of the macula with type B brachydactyly (<a href="/entry/120400">120400</a>). This large English family was followed up by <a href="#18" class="mim-tip-reference" title="Thompson, E. M., Baraitser, M. <strong>Sorsby syndrome: a report on further generations of the original family.</strong> J. Med. Genet. 25: 313-321, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3385739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3385739</a>] [<a href="https://doi.org/10.1136/jmg.25.5.313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3385739">Thompson and Baraitser (1988)</a>. Some affected individuals also had unilateral renal agenesis, double uterus and vagina, mixed hearing loss, high-arched palate, crowded irregular teeth, and supernumerary ribs. <a href="#1" class="mim-tip-reference" title="Bacchelli, C., Wilson, L. C., Cook, J. A., Winter, R. M., Goodman, F. R. <strong>ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. (Letter)</strong> Clin. Genet. 64: 263-265, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12919145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12919145</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00139.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12919145">Bacchelli et al. (2003)</a> had recontacted 1 affected family member and also ascertained a sporadic case with a combination of BDB, left choroidal coloboma, and oligodontia. Direct sequencing of the entire ROR2 gene (<a href="/entry/602337">602337</a>), which is mutant in most cases of brachydactyly type B1, showed no changes in the coding region in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12919145+18169256+3385739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Battle1973" class="mim-tip-reference" title="Battle, H. I., Walker, N. F., Thompson, M. W. <strong>MacKinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family.</strong> Ann. Hum. Genet. 36: 415-424, 1973.">Battle et al. (1973)</a>
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Bacchelli, C., Wilson, L. C., Cook, J. A., Winter, R. M., Goodman, F. R.
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<strong>ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. (Letter)</strong>
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Clin. Genet. 64: 263-265, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12919145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12919145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12919145" 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/10.1034/j.1399-0004.2003.00139.x" target="_blank">Full Text</a>]
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Battle, H. I., Walker, N. F., Thompson, M. W.
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<strong>MacKinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family.</strong>
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Ann. Hum. Genet. 36: 415-424, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4748760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4748760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4748760" 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.1469-1809.1973.tb00605.x" target="_blank">Full Text</a>]
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<strong>Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.</strong>
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Nature Genet. 24: 271-274, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700181" 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/10.1038/73488" target="_blank">Full Text</a>]
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Goeminne, L., Agneessens, A., Kunnen, M.
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<strong>Perodactylie of apicale dystrofie: brachydactylie door hypofalangie II-V met bifide telefalangie I, in vijf generaties.</strong>
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Tijdschr. Geneeskunde 9: 469-472, 1970.
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Gong, Y., Chitayat, D., Kerr, B., Chen, T., Babul-Hirji, R., Pal, A., Reiss, M., Warman, M. L.
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<strong>Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.</strong>
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Am. J. Hum. Genet. 64: 570-577, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Brachydactyly type B1: report of a family with de novo ROR2 mutation. (Letter)</strong>
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Clin. Genet. 70: 538-540, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17101003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Extract from a letter from Mr. L. to Dr Kellie, Leith.</strong>
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Edinburgh Med. Surg. J. 4: 252, 1808.
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<p class="mim-text-font">
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Kjaer, K. W., Tiner, M., Cingoz, S., Karatosun, V., Tommerup, N., Mundlos, S., Gunal, I.
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<strong>A novel subtype of distal symphalangism affecting only the 4th finger. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1571-1573, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533773" 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.32905" 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="9" class="mim-anchor"></a>
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<a id="Lenz1977" class="mim-anchor"></a>
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|
<div class="">
|
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<p class="mim-text-font">
|
|
Lenz, W.
|
|
<strong>Comment.</strong>
|
|
Birth Defects Orig. Art. Ser. XIII(1): 267-268, 1977.
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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="10" class="mim-anchor"></a>
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<a id="Lv2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Lv, D., Luo, Y., Yang, W., Cao, L., Wen, Y., Zhao, X., Sun, M., Lo, W. H.-Y., Zhang, X.
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<strong>A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.</strong>
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J. Hum. Genet. 54: 422-425, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19461659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19461659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19461659" 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/jhg.2009.48" 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="11" class="mim-anchor"></a>
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<a id="MacArthur1932" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacArthur, J. W., McCullough, E.
|
|
<strong>Apical dystrophy as inherited defect of hands and feet.</strong>
|
|
Hum. Biol. 4: 179-207, 1932.
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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="12" class="mim-anchor"></a>
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<a id="MacKinder1857" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacKinder, D.
|
|
<strong>Deficiency of fingers transmitted through six generations.</strong>
|
|
Brit. Med. J. 1: 845-846, 1857.
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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="13" class="mim-anchor"></a>
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<a id="Oishi1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oishi, I., Takeuchi, S., Hashimoto, R., Nagabukuro, A., Ueda, T., Liu, Z.-J., Hatta, T., Akira, S., Matsuda, Y., Yamamura, H., Otani, H., Minami, Y.
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<strong>Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.</strong>
|
|
Genes Cells 4: 41-56, 1999.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231392" 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/10.1046/j.1365-2443.1999.00234.x" 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="14" class="mim-anchor"></a>
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<a id="Oldridge2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oldridge, M., Fortuna, A. M., Maringa, M., Propping, P., Mansour, S., Pollitt, C., DeChiara, T. M., Kimble, R. B., Valenzuela, D. M., Yancopoulos, G. D., Wilkie, A. O. M.
|
|
<strong>Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.</strong>
|
|
Nature Genet. 24: 275-278, 2000.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700182" 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/10.1038/73495" 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="15" class="mim-anchor"></a>
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<a id="Oldridge1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Oldridge, M., Temple, I. K. Santos, H. G., Gibbons, R. J., Mustafa, Z., Chapman, K. E., Loughlin, J., Wilkie, A. O. M.
|
|
<strong>Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.</strong>
|
|
Am. J. Hum. Genet. 64: 578-585, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973296</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302255" 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="Schwabe2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schwabe, G. C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G., Oldridge, M., Wilkie, A. O. M., Komec, R., Mundlos, S.
|
|
<strong>Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.</strong>
|
|
Am. J. Hum. Genet. 67: 822-831, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10986040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10986040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10986040[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=10986040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/303084" 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="17" class="mim-anchor"></a>
|
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<a id="Sorsby1935" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Sorsby, A.
|
|
<strong>Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet.</strong>
|
|
Brit. J. Ophthal. 19: 65-90, 1935.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18169256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18169256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18169256" 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/bjo.19.2.65" 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="Thompson1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Thompson, E. M., Baraitser, M.
|
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<strong>Sorsby syndrome: a report on further generations of the original family.</strong>
|
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J. Med. Genet. 25: 313-321, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3385739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3385739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3385739" 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.25.5.313" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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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>
|
|
<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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Nara Sobreira - updated : 11/06/2012
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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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George E. Tiller - updated : 10/12/2010<br>Cassandra L. Kniffin - updated : 1/7/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Kelly A. Przylepa - updated : 3/10/2005<br>Victor A. McKusick - updated : 10/16/2003<br>Victor A. McKusick - updated : 3/1/2000<br>Victor A. McKusick - updated : 2/12/1999<br>Victor A. McKusick - updated : 2/5/1999
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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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alopez : 02/04/2020
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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 : 11/06/2012<br>terry : 4/9/2012<br>wwang : 10/12/2010<br>wwang : 1/22/2010<br>ckniffin : 1/7/2010<br>carol : 12/23/2009<br>carol : 12/23/2009<br>terry : 12/4/2009<br>wwang : 5/29/2007<br>ckniffin : 5/7/2007<br>joanna : 11/8/2005<br>carol : 3/10/2005<br>cwells : 10/21/2003<br>terry : 10/16/2003<br>carol : 2/26/2001<br>alopez : 10/11/2000<br>alopez : 8/1/2000<br>alopez : 3/1/2000<br>terry : 3/1/2000<br>terry : 4/30/1999<br>carol : 3/19/1999<br>carol : 3/3/1999<br>carol : 3/3/1999<br>carol : 2/19/1999<br>carol : 2/19/1999<br>terry : 2/12/1999<br>mgross : 2/12/1999<br>mgross : 2/10/1999<br>terry : 2/5/1999<br>mark : 12/13/1996<br>terry : 12/10/1996<br>terry : 6/8/1995<br>mimadm : 4/9/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>carol : 7/14/1989
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>#</strong> 113000
|
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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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|
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BRACHYDACTYLY, TYPE B1; BDB1
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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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<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">
|
|
BRACHYDACTYLY, TYPE B; BDB
|
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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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<p>
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<span class="mim-text-font">
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|
<strong>ORPHA:</strong> 572385, 93383;
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|
|
<strong>DO:</strong> 0110969;
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</span>
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</p>
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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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<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>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
9q22.31
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Brachydactyly, type B1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
113000
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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<td>
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ROR2
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<span class="mim-font">
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602337
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that brachydactyly type B1 (BDB1) is caused by heterozygous mutation in the ROR2 gene (602337) on chromosome 9q22.</p><p>Autosomal recessive Robinow syndrome (RRS; 268310) is an allelic disorder; see also 268310 for RRS with severe malformations of the hands and feet.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by Lv et al., 2009). </p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Involvement of the distal phalanges and the association of nail aplasia distinguishes type B brachydactyly, which is said (Gong et al., 1999) to have been the first of the heritable brachydactylies to be described in the medical literature (Kellie, 1808). In this form, as in the 4 A types, the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. This type of hand malformation presents the severest deformity in the brachydactyly group. Symphalangism is also a feature. There is also mild syndactyly between the digits, leading some authors to describe this deformity as symbrachydactyly. Syndactyly in the feet usually involves the second and third toes. MacKinder (1857) described this hand deformity in 6 generations. MacArthur and McCullough (1932) described the same deformity in 3 generations and preferred the term 'apical dystrophy.' Goeminne et al. (1970) observed affected persons in 5 generations. Lenz (1977) made brief reference (with photographs) to peripheral defects simulating amniogenic ('constriction band') defects but distinct from those and from type B brachydactyly. Five persons in 4 generations were affected. Failing penetrance was observed in 2 persons. </p><p>Lv et al. (2009) reported a large Chinese family in which multiple individuals had a severe form of type B brachydactyly showing autosomal dominant inheritance. Five affected individuals were studied in detail. The proband had hypoplastic distal phalanges of digits 2 through 5 of the hands and feet, and marked hypoplasia of the third toes. The 4 other affected individuals had bilateral syndactyly, marked hypoplastic distal phalanges and absent nails of fingers 2 and 5, and flat and broad thumbs. Three individuals had cutaneous syndactyly of fingers 3 and 4, 2 of whom also had toe syndactyly. Radiographic examination of the proband showed bifid distal phalanges of the thumbs, hypoplastic distal phalanges of fingers 2 and 4, with distal symphalangism of finger 2 and 3, absent distal phalanges of finger 5 and biphalangeal toes. Lv et al. (2009) commented on the unusual cutaneous syndactyly phenotype in this family. Genetic analysis identified a heterozygous mutation in the ROR2 gene (2243delC; 602337.0014). </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Gong et al. (1999) described 2 unrelated families with BDB: one English and the other Canadian but of English ancestry. In the Canadian family, they assigned the BDB locus to an 18-cM interval on 9q (lod score 3.5 at theta = 0.0 for marker D9S938). Markers across this interval also cosegregated with the BDB phenotype in the English family (lod score 2.1 at theta = 0.0 for marker D9S277). The authors found within this interval a 7.5-cM region that contained 10 contiguous markers whose disease-associated haplotype was shared by the 2 families, suggesting a common founder among families of English descent with BDB. Gong et al. (1999) evaluated one candidate gene, that for type I transforming growth factor-beta receptor (190181), which maps to 9q33-q34, but identified no mutation in either family. </p><p>Oldridge et al. (1999) performed a genomewide linkage analysis of 3 families with BDB, 2 English and 1 Portuguese. The 2 English families showed linkage to the same region on chromosome 9 (combined multipoint maximum lod score = 8.69 with marker D9S257). The 16-cM disease interval was defined by recombinations with markers D9S1680 and D9S1786. These 2 families shared an identical disease haplotype over 18 markers, inclusive of D9S278-D9S280. This provided strong evidence that the English families had the same ancestral mutation, which reduced the disease interval to less than 12.7 cM between markers D9S257 and D9S1851 in chromosome band 9q22. In the Portuguese family, Oldridge et al. (1999) excluded linkage to this region, a result indicating that BDB is genetically heterogeneous. Reflecting this, there were atypical clinical features in the Portuguese family, with shortening of the thumbs and absence or hypoplasia of the nails of the thumb and hallux. These results enabled a refined phenotypic classification of type B brachydactyly and identified a novel locus for digit morphogenesis in 9q22. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>The ROR2 gene (602337) is localized in the region of 9q22 to which the BDB1 gene had been mapped. Furthermore, mice homozygous for an intragenic lacZ insertion into Ror2 were found by DeChiara et al. (2000) to have abnormal patterning of the digits and other skeletal defects. Ror2 maps to mouse chromosome 13 in a region of conserved synteny with human 9q (Oishi et al., 1999). These observations prompted Oldridge et al. (2000) to perform mutation analysis of the ROR2 gene in 3 unrelated families with BDB1. They identified distinct heterozygous mutations within a 7-amino acid segment of the 943-amino acid protein, all of which predicted truncation of the intracellular portion of protein immediately after the tyrosine kinase (TK) domain. </p><p>In 5 families with BDB1, Schwabe et al. (2000) found 4 novel mutations in the ROR2 gene: 2 frameshifts, 1 splice mutation, and 1 nonsense mutation. The mutations predicted truncation of the protein within 2 distinct regions immediately before and after the TK domain, resulting in a complete or partial loss of the intracellular portion of the protein. Patients with the distal mutations had a more severe phenotype than did those with the proximal mutations. In 1 of the BDB1 families with frameshift mutations (602337.0008), Schwabe et al. (2000) reported an individual, born of consanguineous parents with BDB1, who had a phenotype reminiscent of Robinow syndrome with aplasia/hypoplasia of the phalanges and metacarpals/metatarsals (see 268310). </p><p>Hamamy et al. (2006) reported a Jordanian man with brachydactyly type B who had a heterozygous mutation in the ROR2 gene (602337.0001). He had a severe form of the disease with classic brachydactyly and specific facial features, including prominent nose, high nasal bridge, hypoplastic alae nasi, and high-arched palate. His 3-year-old affected son also had the mutation. </p><p>In a large Turkish family with brachydactyly type B1 and distal symphalangism of the fourth finger, Kjaer et al. (2009) sequenced the ROR2, NOG (602991), and GDF5 (601146) genes and identified a truncating mutation in the ROR2 gene in 10 affected and 3 unaffected individuals. However, no mutations were detected in 3 individuals with isolated distal symphalangism of the fourth finger, which the authors designated 'DS2' (with 'DS1' representing distal symphalangism of the index finger, 185700); they suggested that DS2 should be regarded as a separate genetic entity segregating in the family. Kjaer et al. (2009) also noted that this family presented the mildest mutation-positive BDB1 phenotype reported to date, with 3 unaffected ROR2 mutation carriers and only 3 carriers with the typical BDB1 distal reductions. </p>
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</span>
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<div>
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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>History</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>Sorsby (1935) described the association of congenital coloboma of the macula with type B brachydactyly (120400). This large English family was followed up by Thompson and Baraitser (1988). Some affected individuals also had unilateral renal agenesis, double uterus and vagina, mixed hearing loss, high-arched palate, crowded irregular teeth, and supernumerary ribs. Bacchelli et al. (2003) had recontacted 1 affected family member and also ascertained a sporadic case with a combination of BDB, left choroidal coloboma, and oligodontia. Direct sequencing of the entire ROR2 gene (602337), which is mutant in most cases of brachydactyly type B1, showed no changes in the coding region in these patients. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Battle et al. (1973)
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bacchelli, C., Wilson, L. C., Cook, J. A., Winter, R. M., Goodman, F. R.
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<strong>ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. (Letter)</strong>
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Clin. Genet. 64: 263-265, 2003.
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[PubMed: 12919145]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00139.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Battle, H. I., Walker, N. F., Thompson, M. W.
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<strong>MacKinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family.</strong>
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Ann. Hum. Genet. 36: 415-424, 1973.
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[PubMed: 4748760]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1973.tb00605.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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DeChiara, T. M., Kimble, R. B., Poueymirou, W. T., Rojas, J., Masiakowski, P., Valenzuela, D. M., Yancopoulos, G. D.
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<strong>Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.</strong>
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Nature Genet. 24: 271-274, 2000.
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[PubMed: 10700181]
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[Full Text: https://doi.org/10.1038/73488]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goeminne, L., Agneessens, A., Kunnen, M.
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<strong>Perodactylie of apicale dystrofie: brachydactylie door hypofalangie II-V met bifide telefalangie I, in vijf generaties.</strong>
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Tijdschr. Geneeskunde 9: 469-472, 1970.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gong, Y., Chitayat, D., Kerr, B., Chen, T., Babul-Hirji, R., Pal, A., Reiss, M., Warman, M. L.
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<strong>Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.</strong>
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Am. J. Hum. Genet. 64: 570-577, 1999.
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[PubMed: 9973295]
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[Full Text: https://doi.org/10.1086/302249]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hamamy, H., Saleh, N., Oldridge, M., Al-Hadidy, A., Ajlouni, K.
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<strong>Brachydactyly type B1: report of a family with de novo ROR2 mutation. (Letter)</strong>
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Clin. Genet. 70: 538-540, 2006.
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[PubMed: 17101003]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00719.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kellie, D. R.
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<strong>Extract from a letter from Mr. L. to Dr Kellie, Leith.</strong>
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Edinburgh Med. Surg. J. 4: 252, 1808.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kjaer, K. W., Tiner, M., Cingoz, S., Karatosun, V., Tommerup, N., Mundlos, S., Gunal, I.
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<strong>A novel subtype of distal symphalangism affecting only the 4th finger. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1571-1573, 2009.
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[PubMed: 19533773]
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[Full Text: https://doi.org/10.1002/ajmg.a.32905]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lenz, W.
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<strong>Comment.</strong>
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Birth Defects Orig. Art. Ser. XIII(1): 267-268, 1977.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lv, D., Luo, Y., Yang, W., Cao, L., Wen, Y., Zhao, X., Sun, M., Lo, W. H.-Y., Zhang, X.
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<strong>A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.</strong>
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J. Hum. Genet. 54: 422-425, 2009.
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[PubMed: 19461659]
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[Full Text: https://doi.org/10.1038/jhg.2009.48]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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MacArthur, J. W., McCullough, E.
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<strong>Apical dystrophy as inherited defect of hands and feet.</strong>
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Hum. Biol. 4: 179-207, 1932.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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MacKinder, D.
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<strong>Deficiency of fingers transmitted through six generations.</strong>
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Brit. Med. J. 1: 845-846, 1857.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Oishi, I., Takeuchi, S., Hashimoto, R., Nagabukuro, A., Ueda, T., Liu, Z.-J., Hatta, T., Akira, S., Matsuda, Y., Yamamura, H., Otani, H., Minami, Y.
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<strong>Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.</strong>
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Genes Cells 4: 41-56, 1999.
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[PubMed: 10231392]
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[Full Text: https://doi.org/10.1046/j.1365-2443.1999.00234.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Oldridge, M., Fortuna, A. M., Maringa, M., Propping, P., Mansour, S., Pollitt, C., DeChiara, T. M., Kimble, R. B., Valenzuela, D. M., Yancopoulos, G. D., Wilkie, A. O. M.
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<strong>Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.</strong>
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Nature Genet. 24: 275-278, 2000.
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[PubMed: 10700182]
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[Full Text: https://doi.org/10.1038/73495]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Oldridge, M., Temple, I. K. Santos, H. G., Gibbons, R. J., Mustafa, Z., Chapman, K. E., Loughlin, J., Wilkie, A. O. M.
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<strong>Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.</strong>
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Am. J. Hum. Genet. 64: 578-585, 1999.
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[PubMed: 9973296]
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[Full Text: https://doi.org/10.1086/302255]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schwabe, G. C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G., Oldridge, M., Wilkie, A. O. M., Komec, R., Mundlos, S.
|
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<strong>Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.</strong>
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Am. J. Hum. Genet. 67: 822-831, 2000.
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[PubMed: 10986040]
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[Full Text: https://doi.org/10.1086/303084]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sorsby, A.
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<strong>Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet.</strong>
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Brit. J. Ophthal. 19: 65-90, 1935.
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[PubMed: 18169256]
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[Full Text: https://doi.org/10.1136/bjo.19.2.65]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Thompson, E. M., Baraitser, M.
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<strong>Sorsby syndrome: a report on further generations of the original family.</strong>
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J. Med. Genet. 25: 313-321, 1988.
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[PubMed: 3385739]
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[Full Text: https://doi.org/10.1136/jmg.25.5.313]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 11/06/2012<br>George E. Tiller - updated : 10/12/2010<br>Cassandra L. Kniffin - updated : 1/7/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Kelly A. Przylepa - updated : 3/10/2005<br>Victor A. McKusick - updated : 10/16/2003<br>Victor A. McKusick - updated : 3/1/2000<br>Victor A. McKusick - updated : 2/12/1999<br>Victor A. McKusick - updated : 2/5/1999
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Victor A. McKusick : 6/4/1986
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