2879 lines
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Entry
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- #173650 - KINDLER SYNDROME; KNDLRS
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- OMIM
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<p>
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<span class="h4">#173650</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/173650"><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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</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=KINDLER SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8620&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/NBK349072/" 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/5812" 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/kindler-epidermolysis-bullosa" 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=173650[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=2908" 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/6933471f-76b9-409c-b2e5-dd1af61aa711/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 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:0060472" 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/173650" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060472" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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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> 238836000<br />
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<strong>ORPHA:</strong> 2908<br />
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<strong>DO:</strong> 0060472<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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173650
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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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KINDLER SYNDROME; KNDLRS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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POIKILODERMA, HEREDITARY ACROKERATOTIC<br />
|
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BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY<br />
|
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POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/20/88?start=-3&limit=10&highlight=88">
|
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20p12.3
|
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</a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Kindler 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/173650"> 173650 </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 recessive">AR</abbr>
|
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|
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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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FERMT1
|
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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/607900"> 607900 </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/173650" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/173650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/173650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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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">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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</div>
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|
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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;">
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Periodontal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2556008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2556008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031090&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031090</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span><br /> -
|
|
Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Phimosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266571009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266571009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253854008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449826002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449826002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/198006006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">198006006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N47.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N47.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403766</a>, <a href="https://bioportal.bioontology.org/search?q=C0345326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345326</a>, <a href="https://bioportal.bioontology.org/search?q=C0031538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001741</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Digital webbing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868178</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pseudoainhum of toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868179</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neonatal acral blistering <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868180</a>]</span><br /> -
|
|
Sun sensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
|
|
Diffuse skin atrophy (especially dorsa of hands and feet) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007488</a>]</span><br /> -
|
|
Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
|
|
Patchy hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005585</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005585</a>]</span><br /> -
|
|
Patchy hypopigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005590</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005590</a>]</span><br /> -
|
|
Telangiectases in sun-exposed and nonexposed skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868184</a>]</span><br /> -
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Hyperkeratosis of palms and soles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/706885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">706885006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L85.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L85.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022596</a>, <a href="https://bioportal.bioontology.org/search?q=C4551675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span><br /> -
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- Increased frequency in the Ngobe-Bugle tribe in the Boca del Toro province, on the northwestern Caribbean coast of Panama<br /> -
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Skin blistering and photosensitivity improve in adulthood<br /> -
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- Caused by mutation in the FERM domain-containing kindlin 1 gene (KIND1, <a href="/entry/607900#0001">607900.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Kindler syndrome (KNDLRS) is caused by homozygous mutation in the FERMT1 gene (<a href="/entry/607900">607900</a>) on chromosome 20p12.</p>
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<p>Kindler syndrome (KNDLRS) is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by <a href="#6" class="mim-tip-reference" title="Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J. <strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong> Hum. Molec. Genet. 12: 925-935, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>] [<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668616">Jobard et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Kindler, T. <strong>Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy.</strong> Brit. J. Derm. 66: 104-111, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13149722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13149722</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1954.tb12598.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13149722">Kindler (1954)</a> described an English girl with unusual congenital blistering of her hands and feet. Later in childhood, the patient developed reticulate erythema and diffuse cutaneous atrophy, beginning in sun-exposed areas. Her gums bled easily, and the skin of the dorsal hands and feet had a thin, wrinkled appearance. By 10 years of age, the blistering and sun sensitivity had resolved, but the skin remained thin and fragile (<a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13149722+12789646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Weary, P. E., Manley, W. F., Jr., Graham, G. F. <strong>Hereditary acrokeratotic poikiloderma.</strong> Arch. Derm. 103: 409-422, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4253719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4253719</a>]" pmid="4253719">Weary et al. (1971)</a> described a disorder, which they named hereditary acrokeratotic poikiloderma, in 10 members of a white kindred. Expression was highly variable and fell into 4 categories: (1) vesicopustule formation which remains confined to the hands and feet, beginning from 1 to 3 months of age and resolving in late childhood; (2) widespread eczematoid dermatitis somewhat resembling atopic eczema, starting between ages 3 and 6 months and completely resolving by age 5 years; (3) gradual appearance of diffuse poikiloderma with striate and reticulate atrophy which spares only the face, scalp, and ears and persists into adulthood; and (4) development of keratotic papules on the hands, feet, elbows, and knees, which first appear at varying times before 5 years of age and persist indefinitely. Male-to-male transmission was observed. <a href="#8" class="mim-tip-reference" title="Larregue, M., Prigent, F., Lorette, G., Canuel, C., Ramdenee, P. <strong>Acrokeratose poikilodermique bulleuse et hereditaire de Weary-Kindler.</strong> Ann. Derm. Venereol. 108: 69-76, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015974</a>]" pmid="7015974">Larregue et al. (1981)</a> reviewed 3 pedigrees supporting autosomal dominant inheritance. They stated that a pigmentary anomaly is present in about 90% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4253719+7015974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hacham-Zadeh, S., Garfunkel, A. A. <strong>Kindler syndrome in two related Kurdish families.</strong> Am. J. Med. Genet. 20: 43-48, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3970073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3970073</a>] [<a href="https://doi.org/10.1002/ajmg.1320200107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3970073">Hacham-Zadeh and Garfunkel (1985)</a> suggested autosomal recessive inheritance. They described 2 related Kurdish Jewish sibships, each with first-cousin parents; 1 was affected in the first sibship and 3 were affected in the second. The proposita had had bullae on pressure areas from birth. These healed with atrophic scars. She also had severe photosensitivity on exposed areas and developed widespread poikiloderma. Bullae did not occur after age 17 years. Oral examination showed limitation of mouth opening, ankyloglossia, dental overbite, and atrophy of buccal mucosa with white spots. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3970073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J. <strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong> Hum. Molec. Genet. 12: 925-935, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>] [<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668616">Jobard et al. (2003)</a> described 5 consanguineous families from North Africa with Kindler syndrome. All affected family members exhibited congenital blistering, progressive poikiloderma, ichthyosis, and xerosis. Variable clinical findings among the families included photosensitivity, palmoplantar keratoderma, oral mucosal involvement, syndactyly, and stenosis of mucosal openings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> identified a group of 26 Native American patients with Kindler syndrome, all younger than 40 years of age, who were members of a tribe in the Bocas del Toro province on the northwestern Caribbean coast of Panama. The patients showed congenital acral blisters, blistering after trauma or sun exposure, erythema and itching after sun exposure, and patchy hyper- and hypopigmentation with atrophy and telangiectases (poikiloderma) developing in early childhood in both sun-exposed and nonexposed skin. Other features included hyperkeratosis of the palms and soles and diffuse cutaneous atrophy and wrinkling, particularly on the dorsa of the hands and feet. Other mucocutaneous features included periodontal disease, dental caries, and phimosis. Typically, the blistering and photosensitivity improved markedly in adulthood, but the poikiloderma persisted. There was some variability in phenotypic severity, particularly in the degree of photosensitivity, age at onset of poikiloderma, and degree of hyperkeratosis. <a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> noted that Kindler syndrome clinically resembles both inherited blistering skin disorders such as dystrophic epidermolysis bullosa (<a href="/entry/226600">226600</a>) and congenital poikilodermas such as Rothmund-Thomson syndrome (<a href="/entry/268400">268400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J. <strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong> Hum. Molec. Genet. 12: 925-935, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>] [<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668616">Jobard et al. (2003)</a> performed a genomewide linkage analysis in 5 North African families with Kindler syndrome and narrowed the disease interval to an 834-kb region on chromosome 20p12.3. <a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> confirmed the location of this locus in the Panamanian families and in individuals with Kindler syndrome from diverse geographic backgrounds, some of whom had previously been described (<a href="#14" class="mim-tip-reference" title="Wiebe, C. B., Silver, J. G., Larjava, H. S. <strong>Early-onset periodontitis associated with Weary-Kindler syndrome: a case report.</strong> J. Periodont. 67: 1004-1010, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8910840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8910840</a>] [<a href="https://doi.org/10.1902/jop.1996.67.10.1004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8910840">Wiebe et al., 1996</a>; <a href="#9" class="mim-tip-reference" title="Shimizu, H., Sato, M., Ban, M., Kitajima, Y., Ishizaki, S., Harada, T., Bruckner-Tuderman, L., Fine, J.-D., Burgeson, R., Kon, A., McGrath, J. A., Christiano, A. M., Uitto, J., Nishikawa, T. <strong>Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.</strong> Arch. Derm. 133: 1111-1117, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9301588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9301588</a>]" pmid="9301588">Shimizu et al., 1997</a>; <a href="#11" class="mim-tip-reference" title="Suga, Y., Tsuboi, R., Hashimoto, Y., Yaguchi, H., Ogawa, H. <strong>A Japanese case of Kindler syndrome.</strong> Int. J. Derm. 39: 284-286, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10809978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10809978</a>] [<a href="https://doi.org/10.1046/j.1365-4362.2000.00962.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10809978">Suga et al., 2000</a>; <a href="#2" class="mim-tip-reference" title="Al Aboud, K., Al Hawsawi, K., Al Aboud, D., Al Githami, A. <strong>Kindler syndrome in a Saudi kindred.</strong> Clin. Exp. Derm. 27: 673-676, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12472544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12472544</a>] [<a href="https://doi.org/10.1046/j.1365-2230.2002.01127.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12472544">Al Aboud et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8910840+12472544+10809978+12789646+9301588+12668616" 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>Genetic Heterogeneity</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> studied 2 families with Kindler syndrome, one from Canada, previously reported by <a href="#3" class="mim-tip-reference" title="Haber, R. M., Hanna, W. M. <strong>Kindler syndrome: clinical and ultrastructural findings.</strong> Arch. Derm. 132: 1487-1490, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8961879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8961879</a>] [<a href="https://doi.org/10.1001/archderm.132.12.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8961879">Haber and Hanna (1996)</a>, and the other from the United States, with 1 parent of European descent and the other of African descent, who did not show linkage to 20p12.3. <a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> noted, however, that both of these families showed clinical differences from the Panamanian kindred, suggesting that they may have a disorder that is clinically similar to, but genetically distinct from, Kindler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8961879+12789646" 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 Kindler syndrome in the families reported by <a href="#6" class="mim-tip-reference" title="Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J. <strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong> Hum. Molec. Genet. 12: 925-935, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>] [<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668616">Jobard et al. (2003)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668616" 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 affected members of 4 consanguineous Kindler kindreds from North Africa, <a href="#6" class="mim-tip-reference" title="Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J. <strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong> Hum. Molec. Genet. 12: 925-935, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>] [<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668616">Jobard et al. (2003)</a> characterized 4 homozygous mutations in the kindlerin (FERMT1) gene (<a href="/entry/607900#0001">607900.0001</a>-<a href="/entry/607900#0004">607900.0004</a>). Three of the 4 mutations were predicted to result in truncation of the protein, with loss of FERM and pleckstrin homology (PH) domains. The authors determined that kindlerin is expressed in multiple tissues, including skin, and proposed that it may play a role in cell adhesion processes via integrin signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668616" 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 patients with Kindler syndrome from various ethnic backgrounds, <a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> identified loss-of-function mutations in the KIND1 (FERMT1) gene (<a href="/entry/607900#0005">607900.0005</a>-<a href="/entry/607900#0006">607900.0006</a>). Because kindlerin is a human homolog of the C. elegans protein Unc112, a membrane-associated structural/signaling protein that had been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM), <a href="#10" class="mim-tip-reference" title="Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others. <strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong> Am. J. Hum. Genet. 73: 174-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789646">Siegel et al. (2003)</a> suggested that Kindler syndrome is the first skin fragility disorder shown to be caused by a defect in actin-ECM linkage rather than keratin-ECM linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Heinemann, A., He, Y., Zimina, E., Boerries, M., Busch, H., Chmel, N., Kurz, T., Bruckner-Tuderman, L., Has, C. <strong>Induction of phenotype modifying cytokines by FERMT1 mutations.</strong> Hum. Mutat. 32: 397-406, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21309038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21309038</a>] [<a href="https://doi.org/10.1002/humu.21449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21309038">Heinemann et al. (2011)</a> demonstrated that kindlin-1-deficient keratinocytes respond to cell stress by upregulating the expression of several cytokines, which, via paracrine communication, launch an inflammatory response in the dermis, with subsequent activation of fibroblasts and their differentiation to myofibroblasts, which secrete and deposit increased amounts of extracellular matrix proteins. The data were consistent with a model in which repeated cycles of epidermal cell stress, cytokine secretion, dermal inflammation, and profibrotic processes underlie the mucocutaneous fibrosis in Kindler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21309038" 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="#Aguade1972" class="mim-tip-reference" title="Aguade, J. P., Herrero, C., Castello, C. A., Grimalt, F., Rueda Plata, L. A. <strong>Congenital poikiloderma with vesicobullous lesions: problems in classification of hereditary poikilodermas.</strong> Med. Cutanea 6: 417-435, 1972.">Aguade et al. (1972)</a>; <a href="#Wallach1981" class="mim-tip-reference" title="Wallach, D., Vignon-Pennamen, M.-D., Cottenot, F. <strong>Poikilodermie congenitale avec bulles, type Weary.</strong> Ann. Derm. Venereol. 108: 79-83, 1981.">Wallach et al. (1981)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12472544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12472544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12472544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Haber, R. M., Hanna, W. M.
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<strong>Kindler syndrome: clinical and ultrastructural findings.</strong>
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Arch. Derm. 132: 1487-1490, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8961879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8961879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8961879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archderm.132.12.1487" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hacham-Zadeh1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hacham-Zadeh, S., Garfunkel, A. A.
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<strong>Kindler syndrome in two related Kurdish families.</strong>
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Am. J. Med. Genet. 20: 43-48, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3970073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3970073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3970073" 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.1320200107" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Heinemann2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heinemann, A., He, Y., Zimina, E., Boerries, M., Busch, H., Chmel, N., Kurz, T., Bruckner-Tuderman, L., Has, C.
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<strong>Induction of phenotype modifying cytokines by FERMT1 mutations.</strong>
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Hum. Mutat. 32: 397-406, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21309038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21309038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21309038" 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/humu.21449" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Jobard2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J.
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<strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong>
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Hum. Molec. Genet. 12: 925-935, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg097" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kindler1954" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kindler, T.
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<strong>Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy.</strong>
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Brit. J. Derm. 66: 104-111, 1954.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13149722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13149722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13149722" 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.1365-2133.1954.tb12598.x" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Larregue1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Larregue, M., Prigent, F., Lorette, G., Canuel, C., Ramdenee, P.
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<strong>Acrokeratose poikilodermique bulleuse et hereditaire de Weary-Kindler.</strong>
|
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Ann. Derm. Venereol. 108: 69-76, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7015974" 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="Shimizu1997" class="mim-anchor"></a>
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<div class="">
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Shimizu, H., Sato, M., Ban, M., Kitajima, Y., Ishizaki, S., Harada, T., Bruckner-Tuderman, L., Fine, J.-D., Burgeson, R., Kon, A., McGrath, J. A., Christiano, A. M., Uitto, J., Nishikawa, T.
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<strong>Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.</strong>
|
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Arch. Derm. 133: 1111-1117, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9301588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9301588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9301588" 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="10" class="mim-anchor"></a>
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<a id="Siegel2003" class="mim-anchor"></a>
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<div class="">
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Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others.
|
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<strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong>
|
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Am. J. Hum. Genet. 73: 174-187, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/376609" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Suga2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suga, Y., Tsuboi, R., Hashimoto, Y., Yaguchi, H., Ogawa, H.
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<strong>A Japanese case of Kindler syndrome.</strong>
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Int. J. Derm. 39: 284-286, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10809978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10809978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10809978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-4362.2000.00962.x" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Wallach1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallach, D., Vignon-Pennamen, M.-D., Cottenot, F.
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<strong>Poikilodermie congenitale avec bulles, type Weary.</strong>
|
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Ann. Derm. Venereol. 108: 79-83, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7015975" 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="13" class="mim-anchor"></a>
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<a id="Weary1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weary, P. E., Manley, W. F., Jr., Graham, G. F.
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<strong>Hereditary acrokeratotic poikiloderma.</strong>
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Arch. Derm. 103: 409-422, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4253719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4253719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4253719" 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="14" class="mim-anchor"></a>
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<a id="Wiebe1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wiebe, C. B., Silver, J. G., Larjava, H. S.
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<strong>Early-onset periodontitis associated with Weary-Kindler syndrome: a case report.</strong>
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J. Periodont. 67: 1004-1010, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8910840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8910840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8910840" 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/10.1902/jop.1996.67.10.1004" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></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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Marla J. F. O'Neill - updated : 9/14/2011
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 10/29/2003<br>Cassandra L. Kniffin - reorganized : 10/13/2003<br>Victor A. McKusick - updated : 6/25/2003
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</span>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<span class="mim-text-font">
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carol : 12/22/2023
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<span class="mim-text-font">
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carol : 11/17/2017<br>carol : 11/16/2017<br>carol : 08/25/2016<br>carol : 09/14/2011<br>terry : 9/14/2011<br>carol : 3/26/2008<br>terry : 12/16/2003<br>carol : 10/29/2003<br>carol : 10/13/2003<br>ckniffin : 10/7/2003<br>carol : 7/16/2003<br>carol : 7/16/2003<br>tkritzer : 7/14/2003<br>terry : 6/25/2003<br>alopez : 6/2/1997<br>mimadm : 2/25/1995<br>warfield : 4/12/1994<br>carol : 4/13/1992<br>carol : 3/26/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<strong>#</strong> 173650
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KINDLER SYNDROME; KNDLRS
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POIKILODERMA, HEREDITARY ACROKERATOTIC<br />
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BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY<br />
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POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE
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<strong>SNOMEDCT:</strong> 238836000;
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<strong>ORPHA:</strong> 2908;
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<strong>DO:</strong> 0060472;
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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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20p12.3
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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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Kindler 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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173650
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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 recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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FERMT1
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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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607900
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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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<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 Kindler syndrome (KNDLRS) is caused by homozygous mutation in the FERMT1 gene (607900) on chromosome 20p12.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kindler syndrome (KNDLRS) is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003). </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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<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>Kindler (1954) described an English girl with unusual congenital blistering of her hands and feet. Later in childhood, the patient developed reticulate erythema and diffuse cutaneous atrophy, beginning in sun-exposed areas. Her gums bled easily, and the skin of the dorsal hands and feet had a thin, wrinkled appearance. By 10 years of age, the blistering and sun sensitivity had resolved, but the skin remained thin and fragile (Siegel et al., 2003). </p><p>Weary et al. (1971) described a disorder, which they named hereditary acrokeratotic poikiloderma, in 10 members of a white kindred. Expression was highly variable and fell into 4 categories: (1) vesicopustule formation which remains confined to the hands and feet, beginning from 1 to 3 months of age and resolving in late childhood; (2) widespread eczematoid dermatitis somewhat resembling atopic eczema, starting between ages 3 and 6 months and completely resolving by age 5 years; (3) gradual appearance of diffuse poikiloderma with striate and reticulate atrophy which spares only the face, scalp, and ears and persists into adulthood; and (4) development of keratotic papules on the hands, feet, elbows, and knees, which first appear at varying times before 5 years of age and persist indefinitely. Male-to-male transmission was observed. Larregue et al. (1981) reviewed 3 pedigrees supporting autosomal dominant inheritance. They stated that a pigmentary anomaly is present in about 90% of cases. </p><p>Hacham-Zadeh and Garfunkel (1985) suggested autosomal recessive inheritance. They described 2 related Kurdish Jewish sibships, each with first-cousin parents; 1 was affected in the first sibship and 3 were affected in the second. The proposita had had bullae on pressure areas from birth. These healed with atrophic scars. She also had severe photosensitivity on exposed areas and developed widespread poikiloderma. Bullae did not occur after age 17 years. Oral examination showed limitation of mouth opening, ankyloglossia, dental overbite, and atrophy of buccal mucosa with white spots. </p><p>Jobard et al. (2003) described 5 consanguineous families from North Africa with Kindler syndrome. All affected family members exhibited congenital blistering, progressive poikiloderma, ichthyosis, and xerosis. Variable clinical findings among the families included photosensitivity, palmoplantar keratoderma, oral mucosal involvement, syndactyly, and stenosis of mucosal openings. </p><p>Siegel et al. (2003) identified a group of 26 Native American patients with Kindler syndrome, all younger than 40 years of age, who were members of a tribe in the Bocas del Toro province on the northwestern Caribbean coast of Panama. The patients showed congenital acral blisters, blistering after trauma or sun exposure, erythema and itching after sun exposure, and patchy hyper- and hypopigmentation with atrophy and telangiectases (poikiloderma) developing in early childhood in both sun-exposed and nonexposed skin. Other features included hyperkeratosis of the palms and soles and diffuse cutaneous atrophy and wrinkling, particularly on the dorsa of the hands and feet. Other mucocutaneous features included periodontal disease, dental caries, and phimosis. Typically, the blistering and photosensitivity improved markedly in adulthood, but the poikiloderma persisted. There was some variability in phenotypic severity, particularly in the degree of photosensitivity, age at onset of poikiloderma, and degree of hyperkeratosis. Siegel et al. (2003) noted that Kindler syndrome clinically resembles both inherited blistering skin disorders such as dystrophic epidermolysis bullosa (226600) and congenital poikilodermas such as Rothmund-Thomson syndrome (268400). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Jobard et al. (2003) performed a genomewide linkage analysis in 5 North African families with Kindler syndrome and narrowed the disease interval to an 834-kb region on chromosome 20p12.3. Siegel et al. (2003) confirmed the location of this locus in the Panamanian families and in individuals with Kindler syndrome from diverse geographic backgrounds, some of whom had previously been described (Wiebe et al., 1996; Shimizu et al., 1997; Suga et al., 2000; Al Aboud et al., 2002). </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
|
|
Siegel et al. (2003) studied 2 families with Kindler syndrome, one from Canada, previously reported by Haber and Hanna (1996), and the other from the United States, with 1 parent of European descent and the other of African descent, who did not show linkage to 20p12.3. Siegel et al. (2003) noted, however, that both of these families showed clinical differences from the Panamanian kindred, suggesting that they may have a disorder that is clinically similar to, but genetically distinct from, Kindler syndrome. </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 Kindler syndrome in the families reported by Jobard et al. (2003) was consistent with autosomal recessive 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>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 affected members of 4 consanguineous Kindler kindreds from North Africa, Jobard et al. (2003) characterized 4 homozygous mutations in the kindlerin (FERMT1) gene (607900.0001-607900.0004). Three of the 4 mutations were predicted to result in truncation of the protein, with loss of FERM and pleckstrin homology (PH) domains. The authors determined that kindlerin is expressed in multiple tissues, including skin, and proposed that it may play a role in cell adhesion processes via integrin signaling. </p><p>In patients with Kindler syndrome from various ethnic backgrounds, Siegel et al. (2003) identified loss-of-function mutations in the KIND1 (FERMT1) gene (607900.0005-607900.0006). Because kindlerin is a human homolog of the C. elegans protein Unc112, a membrane-associated structural/signaling protein that had been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM), Siegel et al. (2003) suggested that Kindler syndrome is the first skin fragility disorder shown to be caused by a defect in actin-ECM linkage rather than keratin-ECM linkage. </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>Pathogenesis</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>Heinemann et al. (2011) demonstrated that kindlin-1-deficient keratinocytes respond to cell stress by upregulating the expression of several cytokines, which, via paracrine communication, launch an inflammatory response in the dermis, with subsequent activation of fibroblasts and their differentiation to myofibroblasts, which secrete and deposit increased amounts of extracellular matrix proteins. The data were consistent with a model in which repeated cycles of epidermal cell stress, cytokine secretion, dermal inflammation, and profibrotic processes underlie the mucocutaneous fibrosis in Kindler syndrome. </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>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Aguade et al. (1972); Wallach et al. (1981)
|
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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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Aguade, J. P., Herrero, C., Castello, C. A., Grimalt, F., Rueda Plata, L. A.
|
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<strong>Congenital poikiloderma with vesicobullous lesions: problems in classification of hereditary poikilodermas.</strong>
|
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Med. Cutanea 6: 417-435, 1972.
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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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Al Aboud, K., Al Hawsawi, K., Al Aboud, D., Al Githami, A.
|
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<strong>Kindler syndrome in a Saudi kindred.</strong>
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Clin. Exp. Derm. 27: 673-676, 2002.
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[PubMed: 12472544]
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[Full Text: https://doi.org/10.1046/j.1365-2230.2002.01127.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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Haber, R. M., Hanna, W. M.
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<strong>Kindler syndrome: clinical and ultrastructural findings.</strong>
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Arch. Derm. 132: 1487-1490, 1996.
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[PubMed: 8961879]
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[Full Text: https://doi.org/10.1001/archderm.132.12.1487]
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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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Hacham-Zadeh, S., Garfunkel, A. A.
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<strong>Kindler syndrome in two related Kurdish families.</strong>
|
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Am. J. Med. Genet. 20: 43-48, 1985.
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[PubMed: 3970073]
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[Full Text: https://doi.org/10.1002/ajmg.1320200107]
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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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Heinemann, A., He, Y., Zimina, E., Boerries, M., Busch, H., Chmel, N., Kurz, T., Bruckner-Tuderman, L., Has, C.
|
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<strong>Induction of phenotype modifying cytokines by FERMT1 mutations.</strong>
|
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Hum. Mutat. 32: 397-406, 2011.
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[PubMed: 21309038]
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[Full Text: https://doi.org/10.1002/humu.21449]
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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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Jobard, F., Bouadjar, B., Caux, F., Hadj-Rabia, S., Has, C., Matsuda, F., Weissenbach, J., Lathrop, M., Prud'homme, J.-F., Fischer, J.
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<strong>Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.</strong>
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Hum. Molec. Genet. 12: 925-935, 2003.
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[PubMed: 12668616]
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[Full Text: https://doi.org/10.1093/hmg/ddg097]
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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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Kindler, T.
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<strong>Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy.</strong>
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Brit. J. Derm. 66: 104-111, 1954.
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[PubMed: 13149722]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1954.tb12598.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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Larregue, M., Prigent, F., Lorette, G., Canuel, C., Ramdenee, P.
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<strong>Acrokeratose poikilodermique bulleuse et hereditaire de Weary-Kindler.</strong>
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Ann. Derm. Venereol. 108: 69-76, 1981.
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[PubMed: 7015974]
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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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Shimizu, H., Sato, M., Ban, M., Kitajima, Y., Ishizaki, S., Harada, T., Bruckner-Tuderman, L., Fine, J.-D., Burgeson, R., Kon, A., McGrath, J. A., Christiano, A. M., Uitto, J., Nishikawa, T.
|
|
<strong>Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.</strong>
|
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Arch. Derm. 133: 1111-1117, 1997.
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[PubMed: 9301588]
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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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Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., and 30 others.
|
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<strong>Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.</strong>
|
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Am. J. Hum. Genet. 73: 174-187, 2003.
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[PubMed: 12789646]
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[Full Text: https://doi.org/10.1086/376609]
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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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Suga, Y., Tsuboi, R., Hashimoto, Y., Yaguchi, H., Ogawa, H.
|
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<strong>A Japanese case of Kindler syndrome.</strong>
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Int. J. Derm. 39: 284-286, 2000.
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[PubMed: 10809978]
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[Full Text: https://doi.org/10.1046/j.1365-4362.2000.00962.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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Wallach, D., Vignon-Pennamen, M.-D., Cottenot, F.
|
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<strong>Poikilodermie congenitale avec bulles, type Weary.</strong>
|
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Ann. Derm. Venereol. 108: 79-83, 1981.
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[PubMed: 7015975]
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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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Weary, P. E., Manley, W. F., Jr., Graham, G. F.
|
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<strong>Hereditary acrokeratotic poikiloderma.</strong>
|
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Arch. Derm. 103: 409-422, 1971.
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[PubMed: 4253719]
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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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Wiebe, C. B., Silver, J. G., Larjava, H. S.
|
|
<strong>Early-onset periodontitis associated with Weary-Kindler syndrome: a case report.</strong>
|
|
J. Periodont. 67: 1004-1010, 1996.
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[PubMed: 8910840]
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[Full Text: https://doi.org/10.1902/jop.1996.67.10.1004]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 9/14/2011<br>George E. Tiller - updated : 10/29/2003<br>Cassandra L. Kniffin - reorganized : 10/13/2003<br>Victor A. McKusick - updated : 6/25/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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