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Entry
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- *606603 - EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606603</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606603">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000186197;t=ENST00000334232" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=128178" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606603" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000186197;t=ENST00000334232" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001422628,NM_080738,NM_145861" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_145861" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606603" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=05965&isoform_id=05965_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/EDARADD" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/17973464,18152769,19067936,19067945,19067946,19568065,119590453,119590454,119590455,119590456,119590457,119590458,124504412,153267418,158255160,158257292,189054424,212276512,353453160,902818722,2522518524" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q8WWZ3" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=128178" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000186197;t=ENST00000334232" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=EDARADD" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+128178" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/EDARADD" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:128178" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/128178" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000334232.9&hgg_start=236348259&hgg_end=236484930&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="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="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 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://medlineplus.gov/genetics/gene/edaradd" 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=606603[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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606603[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000186197" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=EDARADD" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EDARADD" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EDARADD" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EDARADD&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA27603" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:14341" 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="https://www.mousephenotype.org/data/genes/MGI:1931001" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/EDARADD#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1931001" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/128178/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002887/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=128178" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050114-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:128178" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=EDARADD&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606603
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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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EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EDARADD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EDARADD</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1824?start=-3&limit=10&highlight=1824">1q42.3-q43</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:236348259-236484930&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:236,348,259-236,484,930</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=614940,614941" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
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View Clinical Synopses
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</a>
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</span>
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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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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1824?start=-3&limit=10&highlight=1824">
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1q42.3-q43
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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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Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614940"> 614940 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, 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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<a href="/entry/614941"> 614941 </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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</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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</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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<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/606603" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606603" 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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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>EDARADD is a death domain adaptor which interacts with the death domain of EDAR (<a href="/entry/604095">604095</a>) and links the receptor to downstream signaling pathways.</p>
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<p><a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> searched for the mutation responsible for the mouse 'crinkled' phenotype, a phenocopy of hypohidrotic ectodermal dysplasia identical to that of edar ('downless') and eda (see <a href="/entry/305100">305100</a>; 'Tabby') mutants. The mouse and human EDARADD proteins are 80% identical with almost complete identity in the death domain, which is located in the carboxy terminus and is similar to the death domain of MyD88 (<a href="/entry/602170">602170</a>), a cytoplasmic transducer of Toll/interleukin receptor signaling. EDARADD also contains a Traf-binding consensus sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" 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>Based on sequence similarity with a BAC, <a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> mapped the EDARADD gene to chromosome 1q42.2-q43, a region for which conservation of synteny with the crinkled region of mouse chromosome 13 had been established. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" 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="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> found that EDARADD and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth and that EDARADD self-associates, a property common to many death domain proteins. Overexpression of EDARADD in HEK293T cells resulted in an NF-kappa-B (see <a href="/entry/164011">164011</a>) reporter gene activation in a dose-dependent manner. <a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> found that EDAR is activated by EDA and uses EDARADD as an adaptor to build an intracellular signal-transducing complex. This linear pathway explains the identical phenotypes of the Tabby, downless, and crinkled mutants, and also the genetic heterogeneity of human hypohidrotic ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" 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 a consanguineous family with autosomal recessive hypohidrotic ectodermal dysplasia (ECTD11B; <a href="/entry/614941">614941</a>), <a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> identified a homozygous mutation in the EDARADD gene (<a href="#0001">606603.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" 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="#1" class="mim-tip-reference" title="Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A. <strong>Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.</strong> Hum. Mutat. 28: 703-709, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17354266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17354266</a>] [<a href="https://doi.org/10.1002/humu.20500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17354266">Bal et al. (2007)</a> identified a heterozygous mutation in the EDARADD gene (<a href="#0002">606603.0002</a>) in affected members of a Moroccan family with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD11A; <a href="/entry/614940">614940</a>). Functional expression studies showed that this mutation and the mutation identified by <a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> decreased NF-kappa-B activation and interfered with EDARADD interaction with EDAR and other EDARADD molecules, although to different degrees. Thus, mutations in the EDARADD gene can lead to both inherited forms of the disorder, indicating a common pathogenic pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17354266+11780064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation German family with HED, <a href="#7" class="mim-tip-reference" title="Wohlfart, S., Soder, S., Smahi, A., Schneider, H. <strong>A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.</strong> Am. J. Med. Genet. 170A: 249-253, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26440664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26440664</a>] [<a href="https://doi.org/10.1002/ajmg.a.37412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26440664">Wohlfart et al. (2016)</a> identified heterozygosity for a missense mutation in the EDARADD gene (D123N; <a href="#0003">606603.0003</a>) that segregated fully with disease and was not found in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26440664" 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 2 sisters with HED from a consanguineous Indian family, <a href="#2" class="mim-tip-reference" title="Chaudhary, A. K., Girisha, K. M., Bashyam, M. D. <strong>A novel EDARADD 5-prime-splice site mutation resulting in activation of two alternate cryptic 5-prime-splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. (Letter)</strong> Am. J. Med. Genet. 170A: 1639-1641, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26991760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26991760</a>] [<a href="https://doi.org/10.1002/ajmg.a.37607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26991760">Chaudhary et al. (2016)</a> identified homozygosity for a splice site mutation (<a href="#0004">606603.0004</a>) that segregated with disease in the family and was not found in 101 ethnically matched controls or public databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26991760" 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 mouse 'crinkled' phenotype results from a genomic deletion of the Edaradd coding region (<a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" 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="Ohazama, A., Courtney, J.-M., Tucker, A. S., Naito, A., Tanaka, S., Inoue, J.-I., Sharpe, P. T. <strong>Traf6 is essential for murine tooth cusp morphogenesis.</strong> Dev. Dyn. 229: 131-135, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699584</a>] [<a href="https://doi.org/10.1002/dvdy.10400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14699584">Ohazama et al. (2004)</a> found that Edaradd mutant mice had small enamel knots similar to those seen in Eda mutant mice. Enamel knots were not visible histologically and the expression of Shh (<a href="/entry/600725">600725</a>) was correspondingly reduced. <a href="#6" class="mim-tip-reference" title="Ohazama, A., Courtney, J.-M., Tucker, A. S., Naito, A., Tanaka, S., Inoue, J.-I., Sharpe, P. T. <strong>Traf6 is essential for murine tooth cusp morphogenesis.</strong> Dev. Dyn. 229: 131-135, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699584</a>] [<a href="https://doi.org/10.1002/dvdy.10400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14699584">Ohazama et al. (2004)</a> concluded that Edaradd is essential in cusp formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14699584" 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="Kuramoto, T., Yokoe, M., Hashimoto, R., Hiai, H., Serikawa, T. <strong>A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.</strong> BMC Genetics 12: 91, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22013926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22013926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22013926[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/10.1186/1471-2156-12-91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22013926">Kuramoto et al. (2011)</a> found a loss-of-function missense mutation in the death domain of the Edaradd gene in the sparse-and-wavy (swh) mutant rat. The swh/swh rat shows sparse and wavy hair, hypoplastic mammary glands, hypoplastic sebaceous glands, and abnormal tooth morphology. <a href="#4" class="mim-tip-reference" title="Kuramoto, T., Yokoe, M., Hashimoto, R., Hiai, H., Serikawa, T. <strong>A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.</strong> BMC Genetics 12: 91, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22013926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22013926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22013926[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/10.1186/1471-2156-12-91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22013926">Kuramoto et al. (2011)</a> considered the swh rat a model of hypohidrotic ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22013926" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=606603[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315309 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315309;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs74315309?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs74315309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs74315309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004407 OR RCV001729334 OR RCV004798715" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004407, RCV001729334, RCV004798715" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004407...</a>
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<p>In a large consanguineous family with hypohidrotic ectodermal dysplasia (ECTD11B; <a href="/entry/614941">614941</a>) previously reported by <a href="#5" class="mim-tip-reference" title="Munoz, F., Lestringant, G., Sybert, V., Frydman, M., Alswaini, A., Frossard, P. M., Jorgenson, R., Zonana, J. <strong>Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.</strong> Am. J. Hum. Genet. 61: 94-100, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9245989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9245989</a>] [<a href="https://doi.org/10.1086/513905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9245989">Munoz et al. (1997)</a>, <a href="#3" class="mim-tip-reference" title="Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A. <strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong> Nature 414: 913-916, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>] [<a href="https://doi.org/10.1038/414913a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780064">Headon et al. (2001)</a> identified a G-to-A transition at nucleotide 424 of the EDARADD gene, resulting in a glutamate-to-lysine substitution at amino acid 142 (E142K) in the EDARADD death domain. This mutation was found in homozygosity. The glu-to-lys mutation alters the charge of an amino acid that is conserved between mouse and human EDARADD, as well as between the MyD88 and the Pfam death domain consensus sequence. This mutation cosegregated with the hypohidrotic ectodermal dysplasia phenotype, with all affected individuals displaying homozygosity for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11780064+9245989" 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 functional expression studies in HEK293T cells, <a href="#1" class="mim-tip-reference" title="Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A. <strong>Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.</strong> Hum. Mutat. 28: 703-709, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17354266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17354266</a>] [<a href="https://doi.org/10.1002/humu.20500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17354266">Bal et al. (2007)</a> showed that the mutant E142K protein impaired NF-kappa-B activation by about 50%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17354266" 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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<strong>.0002 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908116;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004408 OR RCV000055985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004408, RCV000055985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004408...</a>
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<p>In 7 affected members of a large Moroccan family with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD11A; <a href="/entry/614940">614940</a>), <a href="#1" class="mim-tip-reference" title="Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A. <strong>Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.</strong> Hum. Mutat. 28: 703-709, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17354266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17354266</a>] [<a href="https://doi.org/10.1002/humu.20500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17354266">Bal et al. (2007)</a> identified a heterozygous 335T-G transversion in exon 6A of the EDARADD gene, resulting in a leu112-to-arg (L112R) substitution in the death domain of the protein. Functional expression studies in HEK293T cells showed that the mutant L112R protein severely impaired NF-kappa-B activation and acted in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17354266" 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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<strong>.0003 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255629;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239549 OR RCV003765486" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239549, RCV003765486" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239549...</a>
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<p>In a 16-year-old German girl with hypohidrotic ectodermal dysplasia (ECTD11A; <a href="/entry/614940">614940</a>) and her affected mother and maternal grandfather, <a href="#7" class="mim-tip-reference" title="Wohlfart, S., Soder, S., Smahi, A., Schneider, H. <strong>A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.</strong> Am. J. Med. Genet. 170A: 249-253, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26440664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26440664</a>] [<a href="https://doi.org/10.1002/ajmg.a.37412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26440664">Wohlfart et al. (2016)</a> identified heterozygosity for a c.367G-A transition (c.367G-A, NM_145861.2) in the EDARADD gene, resulting in an asp123-to-asn (D123N) substitution within the death domain. The mutation was not found in the proband's unaffected brother, father, and maternal grandmother, or in the ExAC database. Functional analysis indicated that although the mutant protein had similar binding ability to wildtype, activation of NFKB (see <a href="/entry/164011">164011</a>) was severely impaired with the mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26440664" 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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<strong>.0004 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255553 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255553;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239464" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239464" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239464</a>
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<p>In 2 sisters from a consanguineous Indian family with hypohidrotic ectodermal dysplasia (ECTD11B; <a href="/entry/614941">614941</a>), <a href="#2" class="mim-tip-reference" title="Chaudhary, A. K., Girisha, K. M., Bashyam, M. D. <strong>A novel EDARADD 5-prime-splice site mutation resulting in activation of two alternate cryptic 5-prime-splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. (Letter)</strong> Am. J. Med. Genet. 170A: 1639-1641, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26991760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26991760</a>] [<a href="https://doi.org/10.1002/ajmg.a.37607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26991760">Chaudhary et al. (2016)</a> identified homozygosity for a splice site mutation in intron 2 (c.120+1G-A, NM_145861.2) of the EDARADD gene, predicted to inhibit splicing of exon 2. The mutation was not found in their unaffected father, in 101 ethnically matched controls, or in the ExAC database; DNA from their mother was unavailable. Analysis of minigene transcripts in HeLa and HEK293T cells revealed the generation of 2 aberrant transcripts with the mutant, which DNA sequencing showed to have arisen due activation of 2 alternate cryptic 5-prime splice sites. The major aberrant transcript was predicted to cause an altered reading frame, resulting in a premature termination codon located 2 nucleotides upstream of the 3-4 exon junction, whereas the minor transcript would include only 3 of 20 amino acids encoded by exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26991760" 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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Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A.
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<strong>Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.</strong>
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Hum. Mutat. 28: 703-709, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17354266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17354266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17354266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A novel EDARADD 5-prime-splice site mutation resulting in activation of two alternate cryptic 5-prime-splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. (Letter)</strong>
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Am. J. Med. Genet. 170A: 1639-1641, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26991760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26991760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26991760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37607" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Headon2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A.
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<strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong>
|
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Nature 414: 913-916, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/414913a" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Kuramoto2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kuramoto, T., Yokoe, M., Hashimoto, R., Hiai, H., Serikawa, T.
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<strong>A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.</strong>
|
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BMC Genetics 12: 91, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22013926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22013926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22013926[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=22013926" 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/10.1186/1471-2156-12-91" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Munoz1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Munoz, F., Lestringant, G., Sybert, V., Frydman, M., Alswaini, A., Frossard, P. M., Jorgenson, R., Zonana, J.
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<strong>Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.</strong>
|
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Am. J. Hum. Genet. 61: 94-100, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9245989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9245989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9245989" 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/10.1086/513905" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ohazama2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ohazama, A., Courtney, J.-M., Tucker, A. S., Naito, A., Tanaka, S., Inoue, J.-I., Sharpe, P. T.
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<strong>Traf6 is essential for murine tooth cusp morphogenesis.</strong>
|
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Dev. Dyn. 229: 131-135, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14699584" 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/dvdy.10400" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Wohlfart2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wohlfart, S., Soder, S., Smahi, A., Schneider, H.
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<strong>A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.</strong>
|
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Am. J. Med. Genet. 170A: 249-253, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26440664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26440664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26440664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37412" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/09/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Joanna S. Amberger - updated : 11/20/2012<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Gregory S. Antonarakis - updated : 9/13/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 1/9/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/09/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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terry : 11/20/2012<br>carol : 11/20/2012<br>carol : 11/20/2012<br>joanna : 11/15/2012<br>terry : 6/18/2012<br>joanna : 10/7/2008<br>wwang : 9/5/2007<br>ckniffin : 8/20/2007<br>alopez : 6/18/2007<br>carol : 9/13/2005<br>terry : 3/17/2005<br>alopez : 2/4/2002<br>alopez : 1/9/2002
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606603
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EDARADD</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q42.3-q43
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:236,348,259-236,484,930 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype 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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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1q42.3-q43
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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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Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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614940
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, 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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614941
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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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</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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<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>TEXT</strong>
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</span>
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</h4>
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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>EDARADD is a death domain adaptor which interacts with the death domain of EDAR (604095) and links the receptor to downstream signaling pathways.</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>Cloning and Expression</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>Headon et al. (2001) searched for the mutation responsible for the mouse 'crinkled' phenotype, a phenocopy of hypohidrotic ectodermal dysplasia identical to that of edar ('downless') and eda (see 305100; 'Tabby') mutants. The mouse and human EDARADD proteins are 80% identical with almost complete identity in the death domain, which is located in the carboxy terminus and is similar to the death domain of MyD88 (602170), a cytoplasmic transducer of Toll/interleukin receptor signaling. EDARADD also contains a Traf-binding consensus sequence. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Based on sequence similarity with a BAC, Headon et al. (2001) mapped the EDARADD gene to chromosome 1q42.2-q43, a region for which conservation of synteny with the crinkled region of mouse chromosome 13 had been established. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</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">
|
|
<p>Headon et al. (2001) found that EDARADD and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth and that EDARADD self-associates, a property common to many death domain proteins. Overexpression of EDARADD in HEK293T cells resulted in an NF-kappa-B (see 164011) reporter gene activation in a dose-dependent manner. Headon et al. (2001) found that EDAR is activated by EDA and uses EDARADD as an adaptor to build an intracellular signal-transducing complex. This linear pathway explains the identical phenotypes of the Tabby, downless, and crinkled mutants, and also the genetic heterogeneity of human hypohidrotic ectodermal dysplasia. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous family with autosomal recessive hypohidrotic ectodermal dysplasia (ECTD11B; 614941), Headon et al. (2001) identified a homozygous mutation in the EDARADD gene (606603.0001). </p><p>Bal et al. (2007) identified a heterozygous mutation in the EDARADD gene (606603.0002) in affected members of a Moroccan family with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD11A; 614940). Functional expression studies showed that this mutation and the mutation identified by Headon et al. (2001) decreased NF-kappa-B activation and interfered with EDARADD interaction with EDAR and other EDARADD molecules, although to different degrees. Thus, mutations in the EDARADD gene can lead to both inherited forms of the disorder, indicating a common pathogenic pathway. </p><p>In a 3-generation German family with HED, Wohlfart et al. (2016) identified heterozygosity for a missense mutation in the EDARADD gene (D123N; 606603.0003) that segregated fully with disease and was not found in the ExAC database. </p><p>In 2 sisters with HED from a consanguineous Indian family, Chaudhary et al. (2016) identified homozygosity for a splice site mutation (606603.0004) that segregated with disease in the family and was not found in 101 ethnically matched controls or public databases. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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<strong>Animal Model</strong>
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<p>The mouse 'crinkled' phenotype results from a genomic deletion of the Edaradd coding region (Headon et al., 2001). </p><p>Ohazama et al. (2004) found that Edaradd mutant mice had small enamel knots similar to those seen in Eda mutant mice. Enamel knots were not visible histologically and the expression of Shh (600725) was correspondingly reduced. Ohazama et al. (2004) concluded that Edaradd is essential in cusp formation. </p><p>Kuramoto et al. (2011) found a loss-of-function missense mutation in the death domain of the Edaradd gene in the sparse-and-wavy (swh) mutant rat. The swh/swh rat shows sparse and wavy hair, hypoplastic mammary glands, hypoplastic sebaceous glands, and abnormal tooth morphology. Kuramoto et al. (2011) considered the swh rat a model of hypohidrotic ectodermal dysplasia. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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EDARADD, GLU142LYS
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<br />
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SNP: rs74315309,
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gnomAD: rs74315309,
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ClinVar: RCV000004407, RCV001729334, RCV004798715
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<p>In a large consanguineous family with hypohidrotic ectodermal dysplasia (ECTD11B; 614941) previously reported by Munoz et al. (1997), Headon et al. (2001) identified a G-to-A transition at nucleotide 424 of the EDARADD gene, resulting in a glutamate-to-lysine substitution at amino acid 142 (E142K) in the EDARADD death domain. This mutation was found in homozygosity. The glu-to-lys mutation alters the charge of an amino acid that is conserved between mouse and human EDARADD, as well as between the MyD88 and the Pfam death domain consensus sequence. This mutation cosegregated with the hypohidrotic ectodermal dysplasia phenotype, with all affected individuals displaying homozygosity for the mutation. </p><p>In functional expression studies in HEK293T cells, Bal et al. (2007) showed that the mutant E142K protein impaired NF-kappa-B activation by about 50%. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EDARADD, LEU112ARG
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<br />
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SNP: rs121908116,
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ClinVar: RCV000004408, RCV000055985
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 7 affected members of a large Moroccan family with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD11A; 614940), Bal et al. (2007) identified a heterozygous 335T-G transversion in exon 6A of the EDARADD gene, resulting in a leu112-to-arg (L112R) substitution in the death domain of the protein. Functional expression studies in HEK293T cells showed that the mutant L112R protein severely impaired NF-kappa-B activation and acted in a dominant-negative manner. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EDARADD, ASP123ASN
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<br />
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SNP: rs879255629,
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ClinVar: RCV000239549, RCV003765486
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 16-year-old German girl with hypohidrotic ectodermal dysplasia (ECTD11A; 614940) and her affected mother and maternal grandfather, Wohlfart et al. (2016) identified heterozygosity for a c.367G-A transition (c.367G-A, NM_145861.2) in the EDARADD gene, resulting in an asp123-to-asn (D123N) substitution within the death domain. The mutation was not found in the proband's unaffected brother, father, and maternal grandmother, or in the ExAC database. Functional analysis indicated that although the mutant protein had similar binding ability to wildtype, activation of NFKB (see 164011) was severely impaired with the mutant. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EDARADD, IVS2DS, G-A, +1
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<br />
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SNP: rs879255553,
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ClinVar: RCV000239464
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters from a consanguineous Indian family with hypohidrotic ectodermal dysplasia (ECTD11B; 614941), Chaudhary et al. (2016) identified homozygosity for a splice site mutation in intron 2 (c.120+1G-A, NM_145861.2) of the EDARADD gene, predicted to inhibit splicing of exon 2. The mutation was not found in their unaffected father, in 101 ethnically matched controls, or in the ExAC database; DNA from their mother was unavailable. Analysis of minigene transcripts in HeLa and HEK293T cells revealed the generation of 2 aberrant transcripts with the mutant, which DNA sequencing showed to have arisen due activation of 2 alternate cryptic 5-prime splice sites. The major aberrant transcript was predicted to cause an altered reading frame, resulting in a premature termination codon located 2 nucleotides upstream of the 3-4 exon junction, whereas the minor transcript would include only 3 of 20 amino acids encoded by exon 2. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A.
|
|
<strong>Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.</strong>
|
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Hum. Mutat. 28: 703-709, 2007.
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[PubMed: 17354266]
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[Full Text: https://doi.org/10.1002/humu.20500]
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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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Chaudhary, A. K., Girisha, K. M., Bashyam, M. D.
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<strong>A novel EDARADD 5-prime-splice site mutation resulting in activation of two alternate cryptic 5-prime-splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. (Letter)</strong>
|
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Am. J. Med. Genet. 170A: 1639-1641, 2016.
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[PubMed: 26991760]
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[Full Text: https://doi.org/10.1002/ajmg.a.37607]
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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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Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., Overbeek, P. A.
|
|
<strong>Gene defect in ectodermal dysplasia implicates a death domain adapter in development.</strong>
|
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Nature 414: 913-916, 2001.
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[PubMed: 11780064]
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[Full Text: https://doi.org/10.1038/414913a]
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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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Kuramoto, T., Yokoe, M., Hashimoto, R., Hiai, H., Serikawa, T.
|
|
<strong>A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.</strong>
|
|
BMC Genetics 12: 91, 2011. Note: Electronic Article.
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[PubMed: 22013926]
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[Full Text: https://doi.org/10.1186/1471-2156-12-91]
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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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Munoz, F., Lestringant, G., Sybert, V., Frydman, M., Alswaini, A., Frossard, P. M., Jorgenson, R., Zonana, J.
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<strong>Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.</strong>
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Am. J. Hum. Genet. 61: 94-100, 1997.
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[PubMed: 9245989]
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[Full Text: https://doi.org/10.1086/513905]
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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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Ohazama, A., Courtney, J.-M., Tucker, A. S., Naito, A., Tanaka, S., Inoue, J.-I., Sharpe, P. T.
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<strong>Traf6 is essential for murine tooth cusp morphogenesis.</strong>
|
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Dev. Dyn. 229: 131-135, 2004.
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[PubMed: 14699584]
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[Full Text: https://doi.org/10.1002/dvdy.10400]
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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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Wohlfart, S., Soder, S., Smahi, A., Schneider, H.
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<strong>A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.</strong>
|
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Am. J. Med. Genet. 170A: 249-253, 2016.
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[PubMed: 26440664]
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[Full Text: https://doi.org/10.1002/ajmg.a.37412]
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</li>
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</ol>
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<div>
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Marla J. F. O'Neill - updated : 08/09/2016<br>Joanna S. Amberger - updated : 11/20/2012<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Gregory S. Antonarakis - updated : 9/13/2005
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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</div>
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</div>
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</div>
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</div>
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</div>
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</body>
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</html>
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