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Entry
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- #123150 - JACKSON-WEISS SYNDROME; JWS
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- OMIM
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<p>
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<span class="h4">#123150</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/123150"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(JACKSON-WEISS SYNDROME) OR (FGFR1 OR FGFR2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1699&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1455/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3892" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123150[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1540" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/3a5a9102-938b-40cc-a178-9014c1a90606/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111337" 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/123150" 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/OMIA001224/" 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:0111337" 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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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:123150" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 709105005<br />
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<strong>ORPHA:</strong> 1540<br />
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<strong>DO:</strong> 0111337<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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123150
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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JACKSON-WEISS SYNDROME; JWS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/8/211?start=-3&limit=10&highlight=211">
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8p11.23
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Jackson-Weiss syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/123150"> 123150 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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FGFR1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/136350"> 136350 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/10/618?start=-3&limit=10&highlight=618">
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10q26.13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Jackson-Weiss syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/123150"> 123150 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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FGFR2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/176943"> 176943 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/123150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/123150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/123150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" 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>
|
|
|
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</div>
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|
|
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|
|
<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> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Craniosynostosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1421244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1421244</a>, <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Medially deviated, broad great toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852489</a>]</span><br /> -
|
|
Cutaneous syndactyly of second and third toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432040&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432040</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005709</a>]</span><br /> -
|
|
Short, broad metatarsal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864377</a>]</span><br /> -
|
|
Tarsonavicular and calcaneonavicular fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852491</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, <a href="/entry/176943#0007">176943.0007</a>)<br /> -
|
|
Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, <a href="/entry/136350#0001">136350.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that Jackson-Weiss syndrome (JWS) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2; <a href="/entry/176943">176943</a>) on chromosome 10q26.</p><p>One patient with a disorder considered to be Jackson-Weiss syndrome was found to have a mutation in the FGFR1 gene (see <a href="/entry/136350#0001">136350.0001</a>).</p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by <a href="#5" class="mim-tip-reference" title="Heike, C., Seto, M., Hing, A., Palidin, A., Hu, F., Preston, R. A., Ehrlich, G. D., Cunningham, M. <strong>Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred.</strong> Am. J. Med. Genet. 100: 315-324, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343323</a>] [<a href="https://doi.org/10.1002/ajmg.1266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343323">Heike et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343323" 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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</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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<p><a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> reported a syndrome of craniosynostosis, midfacial hypoplasia, and foot anomalies in an Amish kindred. Enlarged great toes and craniofacial abnormalities suggested Pfeiffer syndrome (<a href="/entry/101600">101600</a>); however, thumb abnormalities were not present. In all, 88 affected persons were observed and another 50 were reliably reported to be affected. An autosomal dominant pedigree pattern with variable severity was observed. Indeed, phenotypic expression was so variable that the entire spectrum of the dominantly inherited craniofacial dysostoses and acrocephalosyndactylies (except classic Apert syndrome, <a href="/entry/101200">101200</a>) was seen in the kindred. <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> noted that one branch of the same family with webbing of the second and third toes had been reported by <a href="#2" class="mim-tip-reference" title="Cross, H. E., Opitz, J. M. <strong>Craniosynostosis in the Amish.</strong> J. Pediat. 75: 1037-1044, 1969."None>Cross and Opitz (1969)</a> as having nonspecific craniostenosis with recessive inheritance. <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> identified other family members with webbing of the second and third toes. They concluded that all affected members of the family had the same dominant disorder. Although <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> concluded that mental retardation was not a feature, it was present in some of the patients reported by <a href="#2" class="mim-tip-reference" title="Cross, H. E., Opitz, J. M. <strong>Craniosynostosis in the Amish.</strong> J. Pediat. 75: 1037-1044, 1969."None>Cross and Opitz (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1271196" 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="#5" class="mim-tip-reference" title="Heike, C., Seto, M., Hing, A., Palidin, A., Hu, F., Preston, R. A., Ehrlich, G. D., Cunningham, M. <strong>Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred.</strong> Am. J. Med. Genet. 100: 315-324, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343323</a>] [<a href="https://doi.org/10.1002/ajmg.1266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343323">Heike et al. (2001)</a> studied a previously unrecognized branch of the original family reported by <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> and emphasized the importance of including foot radiographs as part of the clinical evaluation of Jackson-Weiss syndrome patients. See MOLECULAR GENETICS section. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1271196+11343323" 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>Apparent validation of the Jackson-Weiss syndrome was provided by the report of <a href="#3" class="mim-tip-reference" title="Escobar, V., Bixler, D. <strong>Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?</strong> Birth Defects Orig. Art. Ser. XIII(3C): 139-154, 1977."None>Escobar and Bixler (1977)</a>.</p><p><a href="#12" class="mim-tip-reference" title="Winter, R. M., Reardon, W. <strong>Lumpers, splitters, and FGFRs. (Letter)</strong> Am. J. Med. Genet. 63: 501-502, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737660</a>] [<a href="https://doi.org/10.1002/ajmg.1320630302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737660">Winter and Reardon (1996)</a> proposed that the designation Jackson-Weiss syndrome should for the time being 'be reserved for large pedigrees showing extreme intrafamilial variability of craniosynostosis phenotypes encompassing features of Crouzon, Pfeiffer, and Apert syndromes.' The confused state of the nosology of the FGFR-related craniosynostosis syndromes is indicated by the disputes raised by <a href="#1" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>A matter of reading English. (Letter)</strong> Am. J. Med. Genet. 63: 503-504, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737661</a>] [<a href="https://doi.org/10.1002/ajmg.1320630303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737661">Cohen (1996)</a> on the <a href="#12" class="mim-tip-reference" title="Winter, R. M., Reardon, W. <strong>Lumpers, splitters, and FGFRs. (Letter)</strong> Am. J. Med. Genet. 63: 501-502, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737660</a>] [<a href="https://doi.org/10.1002/ajmg.1320630302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737660">Winter and Reardon (1996)</a> letter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8737661+8737660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of JWS in the families reported by <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1271196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By 2-point linkage and haplotype analyses using 13 dinucleotide repeat markers on chromosome 10, <a href="#9" class="mim-tip-reference" title="Li, X., Lewanda, A. F., Eluma, F., Jerald, H., Choi, H., Alozie, I., Proukakis, C., Talbot, C. C., Jr., Kolk, C. V., Bird, L. M., Jones, M. C., Cunningham, M., Clarren, S. K., Pyeritz, R. E., Weissenbach, J., Jackson, C. E., Jabs, E. W. <strong>Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.</strong> Genomics 22: 418-424, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7806229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7806229</a>] [<a href="https://doi.org/10.1006/geno.1994.1403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7806229">Li et al. (1994)</a> showed that the Jackson-Weiss syndrome maps to the same region, 10q23-q26, as the Crouzon syndrome (<a href="/entry/123500">123500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7806229" 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><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W. <strong>Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.</strong> Genomics 19: 115-119, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188211</a>] [<a href="https://doi.org/10.1006/geno.1994.1020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188211">Lewanda et al. (1994)</a> used markers spanning the entirety of the short arm of chromosome 7 to exclude the Jackson-Weiss locus from that region, thus proving that it is not allelic to the Saethre-Chotzen syndrome (<a href="/entry/101400">101400</a>) or to Greig cephalopolysyndactyly (<a href="/entry/175700">175700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188211" 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>In a study of the family in which the Jackson-Weiss syndrome was originally described, <a href="#6" class="mim-tip-reference" title="Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L. R., Jackson, C. E., Jaye, M. <strong>Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.</strong> Nature Genet. 8: 275-279, 1994. Note: Erratum: Nature Genet. 9: 451 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874170</a>] [<a href="https://doi.org/10.1038/ng1194-275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874170">Jabs et al. (1994)</a> discovered an ala344-to-gly (A344G; <a href="/entry/176943#0007">176943.0007</a>) mutation in the conserved region of the immunoglobulin IIIc domain of the gene for fibroblast growth factor receptor-2. Mutations in the FGFR2 gene have also been found in patients with Crouzon syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874170" 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="#5" class="mim-tip-reference" title="Heike, C., Seto, M., Hing, A., Palidin, A., Hu, F., Preston, R. A., Ehrlich, G. D., Cunningham, M. <strong>Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred.</strong> Am. J. Med. Genet. 100: 315-324, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343323</a>] [<a href="https://doi.org/10.1002/ajmg.1266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343323">Heike et al. (2001)</a> studied a previously unrecognized branch of the original family reported by <a href="#7" class="mim-tip-reference" title="Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A. <strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong> J. Pediat. 88: 963-968, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271196">Jackson et al. (1976)</a> and found the A344G mutation in FGFR2 in all affected members. The proband in this family had a leg-length discrepancy and unilateral absence of the fifth digital ray in her right foot. The family demonstrated the wide variability in expression of this mutation. Only one of the affected patients in this branch of the family demonstrated the classic clinical features of craniosynostosis, and all patients exhibited radiographic changes in the feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1271196+11343323" 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 patient with Jackson-Weiss syndrome, <a href="#10" class="mim-tip-reference" title="Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Jr., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W. <strong>FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.</strong> Am. J. Hum. Genet. 58: 491-498, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644708</a>]" pmid="8644708">Meyers et al. (1996)</a> identified heterozygosity for a 1045A-C transversion in exon IIIa of the FGFR2 gene, resulting in a gln289-to-pro (Q289P; <a href="/entry/176943#0014">176943.0014</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Roscioli, T., Flanagan, S., Kumar, P., Masel, J., Gattas, M., Hyland, V. J., Glass, I. A. <strong>Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.</strong> Am. J. Med. Genet. 93: 22-28, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861678</a>] [<a href="https://doi.org/10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861678">Roscioli et al. (2000)</a> reported a patient with what they considered to be the Jackson-Weiss syndrome, who had the FGFR1 pro252-to-arg (P252R) mutation (see <a href="/entry/136350#0001">136350.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861678" 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="#Escobar1977" class="mim-tip-reference" title="Escobar, V., Bixler, D. <strong>On the classification of the acrocephalosyndactyly syndromes.</strong> Clin. Genet. 12: 169-178, 1977.">Escobar and Bixler (1977)</a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Cohen1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cohen, M. M., Jr.
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<strong>A matter of reading English. (Letter)</strong>
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Am. J. Med. Genet. 63: 503-504, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737661" 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.1320630303" target="_blank">Full Text</a>]
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<a id="Cross1969" class="mim-anchor"></a>
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<p class="mim-text-font">
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Cross, H. E., Opitz, J. M.
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<strong>Craniosynostosis in the Amish.</strong>
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J. Pediat. 75: 1037-1044, 1969.
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<a id="Escobar1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Escobar, V., Bixler, D.
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<strong>Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?</strong>
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Birth Defects Orig. Art. Ser. XIII(3C): 139-154, 1977.
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<a id="Escobar1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Escobar, V., Bixler, D.
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<strong>On the classification of the acrocephalosyndactyly syndromes.</strong>
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Clin. Genet. 12: 169-178, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/908170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">908170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=908170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb00920.x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Heike2001" class="mim-anchor"></a>
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Heike, C., Seto, M., Hing, A., Palidin, A., Hu, F., Preston, R. A., Ehrlich, G. D., Cunningham, M.
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<strong>Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred.</strong>
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Am. J. Med. Genet. 100: 315-324, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343323" 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.1266" target="_blank">Full Text</a>]
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<a id="Jabs1994" class="mim-anchor"></a>
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<p class="mim-text-font">
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Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L. R., Jackson, C. E., Jaye, M.
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<strong>Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.</strong>
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Nature Genet. 8: 275-279, 1994. Note: Erratum: Nature Genet. 9: 451 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874170" 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/ng1194-275" target="_blank">Full Text</a>]
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<a id="Jackson1976" class="mim-anchor"></a>
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<p class="mim-text-font">
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Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A.
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<strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong>
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J. Pediat. 88: 963-968, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1271196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)81050-5" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Lewanda1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W.
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<strong>Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.</strong>
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Genomics 19: 115-119, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188211" 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/10.1006/geno.1994.1020" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Li1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, X., Lewanda, A. F., Eluma, F., Jerald, H., Choi, H., Alozie, I., Proukakis, C., Talbot, C. C., Jr., Kolk, C. V., Bird, L. M., Jones, M. C., Cunningham, M., Clarren, S. K., Pyeritz, R. E., Weissenbach, J., Jackson, C. E., Jabs, E. W.
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<strong>Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.</strong>
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Genomics 22: 418-424, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7806229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7806229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7806229" 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/10.1006/geno.1994.1403" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Meyers1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Jr., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W.
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<strong>FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.</strong>
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Am. J. Hum. Genet. 58: 491-498, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Roscioli2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roscioli, T., Flanagan, S., Kumar, P., Masel, J., Gattas, M., Hyland, V. J., Glass, I. A.
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<strong>Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.</strong>
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Am. J. Med. Genet. 93: 22-28, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861678" 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/10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Winter1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Winter, R. M., Reardon, W.
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<strong>Lumpers, splitters, and FGFRs. (Letter)</strong>
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Am. J. Med. Genet. 63: 501-502, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737660" 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.1320630302" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 02/27/2020
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 6/13/2001<br>Victor A. McKusick - updated : 7/10/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 10/31/2022
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<span class="mim-text-font">
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alopez : 02/27/2020<br>carol : 09/24/2012<br>carol : 4/25/2012<br>terry : 4/24/2012<br>terry : 3/16/2010<br>carol : 3/16/2010<br>mcapotos : 6/13/2001<br>mcapotos : 6/13/2001<br>carol : 7/18/2000<br>terry : 7/10/2000<br>carol : 3/29/2000<br>carol : 7/15/1998<br>alopez : 7/29/1997<br>alopez : 7/7/1997<br>mark : 1/3/1997<br>mark : 6/25/1996<br>terry : 6/14/1996<br>mark : 6/7/1995<br>carol : 12/5/1994<br>mimadm : 9/24/1994<br>jason : 6/28/1994<br>warfield : 4/8/1994<br>pfoster : 4/5/1994
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<strong>#</strong> 123150
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<h3>
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JACKSON-WEISS SYNDROME; JWS
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CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 709105005;
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<strong>ORPHA:</strong> 1540;
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<strong>DO:</strong> 0111337;
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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8p11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Jackson-Weiss syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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123150
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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FGFR1
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</span>
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</td>
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<td>
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<span class="mim-font">
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136350
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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10q26.13
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</span>
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</td>
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<td>
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<span class="mim-font">
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Jackson-Weiss syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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123150
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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FGFR2
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</span>
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</td>
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<td>
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<span class="mim-font">
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176943
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</span>
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</td>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Jackson-Weiss syndrome (JWS) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2; 176943) on chromosome 10q26.</p><p>One patient with a disorder considered to be Jackson-Weiss syndrome was found to have a mutation in the FGFR1 gene (see 136350.0001).</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jackson et al. (1976) reported a syndrome of craniosynostosis, midfacial hypoplasia, and foot anomalies in an Amish kindred. Enlarged great toes and craniofacial abnormalities suggested Pfeiffer syndrome (101600); however, thumb abnormalities were not present. In all, 88 affected persons were observed and another 50 were reliably reported to be affected. An autosomal dominant pedigree pattern with variable severity was observed. Indeed, phenotypic expression was so variable that the entire spectrum of the dominantly inherited craniofacial dysostoses and acrocephalosyndactylies (except classic Apert syndrome, 101200) was seen in the kindred. Jackson et al. (1976) noted that one branch of the same family with webbing of the second and third toes had been reported by Cross and Opitz (1969) as having nonspecific craniostenosis with recessive inheritance. Jackson et al. (1976) identified other family members with webbing of the second and third toes. They concluded that all affected members of the family had the same dominant disorder. Although Jackson et al. (1976) concluded that mental retardation was not a feature, it was present in some of the patients reported by Cross and Opitz (1969). </p><p>Heike et al. (2001) studied a previously unrecognized branch of the original family reported by Jackson et al. (1976) and emphasized the importance of including foot radiographs as part of the clinical evaluation of Jackson-Weiss syndrome patients. See MOLECULAR GENETICS section. </p><p>Apparent validation of the Jackson-Weiss syndrome was provided by the report of Escobar and Bixler (1977).</p><p>Winter and Reardon (1996) proposed that the designation Jackson-Weiss syndrome should for the time being 'be reserved for large pedigrees showing extreme intrafamilial variability of craniosynostosis phenotypes encompassing features of Crouzon, Pfeiffer, and Apert syndromes.' The confused state of the nosology of the FGFR-related craniosynostosis syndromes is indicated by the disputes raised by Cohen (1996) on the Winter and Reardon (1996) letter. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of JWS in the families reported by Jackson et al. (1976) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By 2-point linkage and haplotype analyses using 13 dinucleotide repeat markers on chromosome 10, Li et al. (1994) showed that the Jackson-Weiss syndrome maps to the same region, 10q23-q26, as the Crouzon syndrome (123500). </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Lewanda et al. (1994) used markers spanning the entirety of the short arm of chromosome 7 to exclude the Jackson-Weiss locus from that region, thus proving that it is not allelic to the Saethre-Chotzen syndrome (101400) or to Greig cephalopolysyndactyly (175700). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of the family in which the Jackson-Weiss syndrome was originally described, Jabs et al. (1994) discovered an ala344-to-gly (A344G; 176943.0007) mutation in the conserved region of the immunoglobulin IIIc domain of the gene for fibroblast growth factor receptor-2. Mutations in the FGFR2 gene have also been found in patients with Crouzon syndrome. </p><p>Heike et al. (2001) studied a previously unrecognized branch of the original family reported by Jackson et al. (1976) and found the A344G mutation in FGFR2 in all affected members. The proband in this family had a leg-length discrepancy and unilateral absence of the fifth digital ray in her right foot. The family demonstrated the wide variability in expression of this mutation. Only one of the affected patients in this branch of the family demonstrated the classic clinical features of craniosynostosis, and all patients exhibited radiographic changes in the feet. </p><p>In a patient with Jackson-Weiss syndrome, Meyers et al. (1996) identified heterozygosity for a 1045A-C transversion in exon IIIa of the FGFR2 gene, resulting in a gln289-to-pro (Q289P; 176943.0014) substitution. </p><p>Roscioli et al. (2000) reported a patient with what they considered to be the Jackson-Weiss syndrome, who had the FGFR1 pro252-to-arg (P252R) mutation (see 136350.0001). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
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</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Escobar and Bixler (1977)
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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">
|
|
<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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Cohen, M. M., Jr.
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<strong>A matter of reading English. (Letter)</strong>
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Am. J. Med. Genet. 63: 503-504, 1996.
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[PubMed: 8737661]
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[Full Text: https://doi.org/10.1002/ajmg.1320630303]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cross, H. E., Opitz, J. M.
|
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<strong>Craniosynostosis in the Amish.</strong>
|
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J. Pediat. 75: 1037-1044, 1969.
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Escobar, V., Bixler, D.
|
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<strong>Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?</strong>
|
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Birth Defects Orig. Art. Ser. XIII(3C): 139-154, 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">
|
|
Escobar, V., Bixler, D.
|
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<strong>On the classification of the acrocephalosyndactyly syndromes.</strong>
|
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Clin. Genet. 12: 169-178, 1977.
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[PubMed: 908170]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb00920.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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Heike, C., Seto, M., Hing, A., Palidin, A., Hu, F., Preston, R. A., Ehrlich, G. D., Cunningham, M.
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<strong>Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred.</strong>
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Am. J. Med. Genet. 100: 315-324, 2001.
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[PubMed: 11343323]
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[Full Text: https://doi.org/10.1002/ajmg.1266]
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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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Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L. R., Jackson, C. E., Jaye, M.
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<strong>Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.</strong>
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Nature Genet. 8: 275-279, 1994. Note: Erratum: Nature Genet. 9: 451 only, 1995.
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[PubMed: 7874170]
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[Full Text: https://doi.org/10.1038/ng1194-275]
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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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Jackson, C. E., Weiss, L., Reynolds, W. A., Forman, T. F., Peterson, J. A.
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<strong>Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.</strong>
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J. Pediat. 88: 963-968, 1976.
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[PubMed: 1271196]
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[Full Text: https://doi.org/10.1016/s0022-3476(76)81050-5]
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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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Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W.
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<strong>Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.</strong>
|
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Genomics 19: 115-119, 1994.
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[PubMed: 8188211]
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[Full Text: https://doi.org/10.1006/geno.1994.1020]
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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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Li, X., Lewanda, A. F., Eluma, F., Jerald, H., Choi, H., Alozie, I., Proukakis, C., Talbot, C. C., Jr., Kolk, C. V., Bird, L. M., Jones, M. C., Cunningham, M., Clarren, S. K., Pyeritz, R. E., Weissenbach, J., Jackson, C. E., Jabs, E. W.
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<strong>Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.</strong>
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Genomics 22: 418-424, 1994.
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[PubMed: 7806229]
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[Full Text: https://doi.org/10.1006/geno.1994.1403]
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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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Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Jr., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W.
|
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<strong>FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.</strong>
|
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Am. J. Hum. Genet. 58: 491-498, 1996.
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[PubMed: 8644708]
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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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Roscioli, T., Flanagan, S., Kumar, P., Masel, J., Gattas, M., Hyland, V. J., Glass, I. A.
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<strong>Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.</strong>
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Am. J. Med. Genet. 93: 22-28, 2000.
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[PubMed: 10861678]
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[Full Text: https://doi.org/10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u]
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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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Winter, R. M., Reardon, W.
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<strong>Lumpers, splitters, and FGFRs. (Letter)</strong>
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Am. J. Med. Genet. 63: 501-502, 1996.
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[PubMed: 8737660]
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[Full Text: https://doi.org/10.1002/ajmg.1320630302]
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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 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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Anne M. Stumpf - updated : 02/27/2020<br>Sonja A. Rasmussen - updated : 6/13/2001<br>Victor A. McKusick - updated : 7/10/2000
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</span>
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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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<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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Edit History:
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</span>
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</div>
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