3892 lines
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Entry
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- *164950 - FIBROBLAST GROWTH FACTOR 3; FGF3
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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">*164950</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/164950">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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<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=ENSG00000186895;t=ENST00000334134" 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=2248" 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=164950" 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 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=ENSG00000186895;t=ENST00000334134" 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_005247" 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_005247" 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=164950" 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=01289&isoform_id=01289_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/FGF3" 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/122748,312409,4885233,111599421,119595159,119595160" 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/P11487" 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=2248" 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=ENSG00000186895;t=ENST00000334134" 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=FGF3" 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=FGF3" 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+2248" 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/FGF3" 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:2248" 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/2248" 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=chr11&hgg_gene=ENST00000334134.4&hgg_start=69809968&hgg_end=69819416&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://search.clinicalgenome.org/kb/gene-dosage/HGNC:3681" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3681" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/fgf3" 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=164950[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 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=164950[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/ENSG00000186895" 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=FGF3" 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=FGF3" 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=FGF3" 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=FGF3&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/PA28120" 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:3681" 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://flybase.org/reports/FBgn0014135.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95517" 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/FGF3#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:95517" 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/2248/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://www.orthodb.org/?ncbi=2248" 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://wormbase.org/db/gene/gene?name=WBGene00002881;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-980526-178" 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:2248" 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=FGF3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702360007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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164950
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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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FIBROBLAST GROWTH FACTOR 3; FGF3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ONCOGENE INT2; INT2<br />
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V-INT2 MURINE MAMMARY TUMOR VIRUS INTEGRATION SITE ONCOGENE HOMOLOG
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 2, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="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=FGF3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FGF3</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/11/701?start=-3&limit=10&highlight=701">11q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:69809968-69819416&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'})">11:69,809,968-69,819,416</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/701?start=-3&limit=10&highlight=701">
|
|
11q13.3
|
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</a>
|
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</span>
|
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</td>
|
|
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|
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<td>
|
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<span class="mim-font">
|
|
Deafness, congenital with inner ear agenesis, microtia, and microdontia
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/610706"> 610706 </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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/164950" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>FGF3 is involved in inner ear development (<a href="#10" class="mim-tip-reference" title="Represa, J., Leon, Y., Miner, C., Giraldez, F. <strong>The int-2 proto-oncogene is responsible for induction of the inner ear.</strong> Nature 353: 561-563, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922362</a>] [<a href="https://doi.org/10.1038/353561a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922362">Represa et al., 1991</a>; <a href="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17236138+1922362" 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>Like Int1 (see <a href="/entry/164820">164820</a>), Int2 is an oncogene implicated in mouse mammary carcinoma. By low-stringency hybridization, <a href="#3" class="mim-tip-reference" title="Casey, G., Smith, R., McGillivray, D., Peters, G., Dickson, C. <strong>Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene.</strong> Molec. Cell. Biol. 6: 502-510, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023852</a>] [<a href="https://doi.org/10.1128/mcb.6.2.502-510.1986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3023852">Casey et al. (1986)</a> found homologous genes in a variety of mammalian species, including humans, but not in other classes or phyla. In 9 primary human breast tumors, 3 breast tumor cell lines, and 3 normal persons, no evidence of gross amplification or rearrangement of the INT2 locus was found. Three RFLPs were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3023852" 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="#2" class="mim-tip-reference" title="Brookes, S., Smith, R., Casey, G., Dickson, C., Peters, G. <strong>Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells.</strong> Oncogene 4: 429-436, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2470007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2470007</a>]" pmid="2470007">Brookes et al. (1989)</a> determined that the predicted 239-amino acid INT2 protein is 89% identical to mouse Int2 over the first 217 residues, but the C terminus is completely divergent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2470007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Brookes, S., Smith, R., Casey, G., Dickson, C., Peters, G. <strong>Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells.</strong> Oncogene 4: 429-436, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2470007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2470007</a>]" pmid="2470007">Brookes et al. (1989)</a> reported that the INT2 gene contains 3 exons which correspond to those in mouse Int2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2470007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By a combination of in situ and somatic cell hybridization, <a href="#3" class="mim-tip-reference" title="Casey, G., Smith, R., McGillivray, D., Peters, G., Dickson, C. <strong>Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene.</strong> Molec. Cell. Biol. 6: 502-510, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023852</a>] [<a href="https://doi.org/10.1128/mcb.6.2.502-510.1986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3023852">Casey et al. (1986)</a> mapped the INT2 gene to 11q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3023852" 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>As pointed out by <a href="#9" class="mim-tip-reference" title="Nusse, R., Brown, A., Papkoff, J., Scambler, P., Shackleford, G., McMahon, A., Moon, R., Varmus, H. <strong>A new nomenclature for int-1 and related genes: the Wnt gene family. (Letter)</strong> Cell 64: 231-232, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1846319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1846319</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90633-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1846319">Nusse et al. (1991)</a>, the INT1, INT2, and INT3 (<a href="/entry/164951">164951</a>) genes are fundamentally unrelated. They were given similar designations because they shared in common the fact that they were activated in some mammary tumors by integration of MMTV proviruses. The INT2 gene encodes a member of the fibroblast growth factor (FGF) family (<a href="#4" class="mim-tip-reference" title="Dickson, C., Peters, G. <strong>Potential oncogene product related to growth factors.</strong> Nature 326: 833, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3574458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3574458</a>] [<a href="https://doi.org/10.1038/326833a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3574458">Dickson and Peters, 1987</a>). Thus, the similarity in name between INT1 (on 12q) and INT2 (on 11q) cannot be taken as further evidence of homeology of chromosomes 11 and 12. The existence of fibroblast growth factor-6 (<a href="/entry/134921">134921</a>) on 12p13 may reflect homeology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3574458+1846319" 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>Fibroblast growth factors have been associated with mesoderm induction in the amphibian embryo, and INT2 has a distinct pattern of expression throughout development in vertebrates. In the mouse embryo, Int2 transcripts were detected in the rhombencephalon at a developmental stage when the induction of the inner ear occurs. <a href="#10" class="mim-tip-reference" title="Represa, J., Leon, Y., Miner, C., Giraldez, F. <strong>The int-2 proto-oncogene is responsible for induction of the inner ear.</strong> Nature 353: 561-563, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922362</a>] [<a href="https://doi.org/10.1038/353561a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1922362">Represa et al. (1991)</a> provided direct evidence that Int2 constitutes a signal for the induction of the otic vesicle, the primordium of the inner ear: the formation of the otic vesicle was inhibited by antisense oligonucleotides targeted to the secreted form of Int2, and by antibodies against Int2 oncoproteins; and basic FGF can mimic the inductive signal in the absence of the rhombencephalon. Congenital deafness due to mutation in the INT2 gene could be sought by identifying a form of deafness that maps to 11q. Examples of oncogenes or tumor suppressor genes that are known also to be 'teratogenes' include WT1 (<a href="/entry/607102">607102</a>), KIT (<a href="/entry/164920">164920</a>), GLI3 (<a href="/entry/165240">165240</a>), PAX3 (<a href="/entry/606597">606597</a>), and RET (<a href="/entry/164761">164761</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1922362" 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>Using immunohistochemistry with a tissue microarray containing 406 nonsmall cell lung cancer (see NSCLC; <a href="/entry/211980">211980</a>) samples, <a href="#13" class="mim-tip-reference" title="Tai, A. L. S., Sham, J. S. T., Xie, D., Fang, Y., Wu, Y.-L., Hu, L., Deng, W., Tsao, G. S. W., Qiao, G.-B., Cheung, A. L. M., Guan, X.-Y. <strong>Co-overexpression of fibroblast growth factor 3 and epidermal growth factor receptor is correlated with the development of nonsmall cell lung carcinoma.</strong> Cancer 106: 146-155, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16329133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16329133</a>] [<a href="https://doi.org/10.1002/cncr.21581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16329133">Tai et al. (2006)</a> documented overexpression of FGF3 and EGFR (<a href="/entry/131550">131550</a>) in 61% and 69% of samples, respectively. They found significant correlation (p less than 0.001) between overexpression of EGFR and of FGF3. <a href="#13" class="mim-tip-reference" title="Tai, A. L. S., Sham, J. S. T., Xie, D., Fang, Y., Wu, Y.-L., Hu, L., Deng, W., Tsao, G. S. W., Qiao, G.-B., Cheung, A. L. M., Guan, X.-Y. <strong>Co-overexpression of fibroblast growth factor 3 and epidermal growth factor receptor is correlated with the development of nonsmall cell lung carcinoma.</strong> Cancer 106: 146-155, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16329133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16329133</a>] [<a href="https://doi.org/10.1002/cncr.21581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16329133">Tai et al. (2006)</a> suggested that co-overexpression of EGFR and FGF3 may play an important role in the pathogenesis of lung carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16329133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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In their review, <a href="#5" class="mim-tip-reference" title="Frenz, D. A., Liu, W., Cvekl, A., Xie, Q., Wassef, L., Quadro, L., Niederreither, K., Maconochie, M., Shanske, A. <strong>Retinoid signaling in inner ear development: a 'Goldilocks' phenomenon.</strong> Am. J. Med. Genet. 152A: 2947-2961, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21108385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21108385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21108385[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/10.1002/ajmg.a.33670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21108385">Frenz et al. (2010)</a> noted that there is a critical period when development of the inner ear is dependent upon signaling through retinoic acid and its receptors (see <a href="/entry/180240">180240</a>). They presented a model whereby either over- or underavailability of retinoic acid disrupts FGF3 and FGF10 (<a href="/entry/602115">602115</a>) activation, leading to altered expression of the downstream target genes DLX5 (<a href="/entry/600028">600028</a>) and DLX6 (<a href="/entry/600030">600030</a>) and defects in inner ear development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21108385" 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="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al. (2007)</a> identified 9 individuals from 3 unrelated Turkish families with a novel autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with complete absence of inner ear structures (Michel aplasia) (<a href="/entry/610706">610706</a>). Using a microarray method for genomewide linkage analysis searching for homozygous SNP blocks that were shared by all affected members, a region on 11q13 came into consideration. All 5 affected individuals in 1 family were homozygous for 9 consecutive SNPs in the region of 11q13 that contains the FGF3 gene. Because of overlap features of the syndrome in these patients to the LADD syndrome (<a href="/entry/149730">149730</a>), <a href="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al. (2007)</a> considered that homozygous mutation in a fibroblast growth factor might be responsible. A homozygous missense mutation in FGF3, ser156 to pro (<a href="#0001">164950.0001</a>), was found in 1 family; in the second family, a homozygous nonsense mutation, arg104 to ter (<a href="#0002">164950.0002</a>), was found; and in the third family, a homozygous 1-bp deletion, 616delG (<a href="#0003">164950.0003</a>), was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large consanguineous Saudi Arabian family with deafness, microtia, and microdontia, <a href="#1" class="mim-tip-reference" title="Alsmadi, O., Meyer, B. F., Alkuraya, F, Wakil, S., Alkayal, F., Al-Saud, H., Ramzan, K., Al-Sayed, M. <strong>Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).</strong> Europ. J. Hum. Genet. 17: 14-21, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18701883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18701883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18701883[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18701883">Alsmadi et al. (2009)</a> identified a homozygous mutation in the FGF3 gene (<a href="#0004">164950.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18701883" 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 families with otodental dysplasia (<a href="/entry/166750">166750</a>) and 1 with otodental dysplasia and coloboma <a href="#6" class="mim-tip-reference" title="Gregory-Evans, C. Y., Moosajee, M., Hodges, M. D., Mackay, D. S., Game, L., Vargesson, N., Bloch-Zupan, A., Ruschendorf, F., Santos-Pinto, L., Wackens, G., Gregory-Evans, K. <strong>SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.</strong> Hum. Molec. Genet. 16: 2482-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17656375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17656375</a>] [<a href="https://doi.org/10.1093/hmg/ddm204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17656375">Gregory-Evans et al. (2007)</a> identified overlapping hemizygous microdeletions on chromosome 11q13, the smallest of which spanned 43 kb from <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9666584;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9666584</a> in the 5-prime untranslated region of the FGF4 gene (<a href="/entry/164980">164980</a>) to <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41408348;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs41408348</a> in the 5-prime untranslated region of the FGF3 gene. In the family with otodental dysplasia and coloboma, the microdeletion spanned 490 kb and encompassed the FADD gene (<a href="/entry/602457">602457</a>). <a href="#6" class="mim-tip-reference" title="Gregory-Evans, C. Y., Moosajee, M., Hodges, M. D., Mackay, D. S., Game, L., Vargesson, N., Bloch-Zupan, A., Ruschendorf, F., Santos-Pinto, L., Wackens, G., Gregory-Evans, K. <strong>SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.</strong> Hum. Molec. Genet. 16: 2482-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17656375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17656375</a>] [<a href="https://doi.org/10.1093/hmg/ddm204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17656375">Gregory-Evans et al. (2007)</a> suggested that FGF3 haploinsufficiency is likely the cause of otodental syndrome and that FADD haploinsufficiency accounts for the associated ocular coloboma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17656375" 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="#12" class="mim-tip-reference" title="Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A. <strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong> Am. J. Med. Genet. 155A: 1096-1101, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>] [<a href="https://doi.org/10.1002/ajmg.a.33962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21480479">Sensi et al. (2011)</a> reported 2 families with deafness, microtia, and microdontia, 1 from Albania and 1 from Italy, in which affected individuals were compound heterozygous for mutations in the FGF3 gene (<a href="#0002">164950.0002</a> and <a href="#0007">164950.0007</a>-<a href="#0009">164950.0009</a>), respectively. The authors stated that these were the first compound heterozygotes for mutations in the FGF3 gene to be reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Martinez-Morales, J.-R., Del Bene, F., Nica, G., Hammerschmidt, M., Bovolenta, P., Wittbrodt, J. <strong>Differentiation of the vertebrate retina is coordinated by an FGF signaling center.</strong> Dev. Cell 8: 565-574, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15809038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15809038</a>] [<a href="https://doi.org/10.1016/j.devcel.2005.01.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15809038">Martinez-Morales et al. (2005)</a> demonstrated that Fgf3 and Fgf8 (<a href="/entry/600483">600483</a>) cooperate in initiating neuronal differentiation in the zebrafish retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15809038" 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>Dogs with a characteristic dorsal hair ridge seem to have been present in both Africa and Asia long before European colonization. The Rhodesian ridgeback dog, first registered in South Africa in 1924, is most likely a blend of European dogs (brought to Africa by early colonizers) and an extinct indigenous breed of Africa. There are Thai and Vietnamese dogs with a dorsal hair ridge closely resembling the one found in Rhodesian ridgeback dogs. <a href="#11" class="mim-tip-reference" title="Salmon Hillbertz, N. H. C., Isaksson, M., Karlsson, E. K., Hellmen, E., Pielberg, G. R., Savolainen, P., Wade, C. M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G. <strong>Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.</strong> Nature Genet. 39: 1318-1320, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906623</a>] [<a href="https://doi.org/10.1038/ng.2007.4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906623">Salmon Hillbertz et al. (2007)</a> performed histology of the skin from a ridged dog, which showed lateral orientation of the hair follicles and sebaceous glands; in contrast, skin from ridgeless dogs showed caudally oriented hair follicles. Ridgeback dogs are affected by the congenital malformation dermoid sinus, which closely resembles a neural tube defect in humans usually called dermal sinus (see <a href="/entry/600145">600145</a>). <a href="#11" class="mim-tip-reference" title="Salmon Hillbertz, N. H. C., Isaksson, M., Karlsson, E. K., Hellmen, E., Pielberg, G. R., Savolainen, P., Wade, C. M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G. <strong>Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.</strong> Nature Genet. 39: 1318-1320, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906623</a>] [<a href="https://doi.org/10.1038/ng.2007.4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906623">Salmon Hillbertz et al. (2007)</a> showed that the causative mutation in ridgeback dogs is a 133-kb duplication involving 3 fibroblast growth factor genes: FGF3, FGF4 (<a href="/entry/164980">164980</a>), and FGF19 (<a href="/entry/603891">603891</a>), as well as ORAOV1 (<a href="/entry/607224">607224</a>) and the 3-prime end of the CCND1 gene (<a href="/entry/168461">168461</a>). All of these genes are syntenic in the human on the long arm of chromosome 11; they are located on chromosome 18 of the dog. In these studies, <a href="#11" class="mim-tip-reference" title="Salmon Hillbertz, N. H. C., Isaksson, M., Karlsson, E. K., Hellmen, E., Pielberg, G. R., Savolainen, P., Wade, C. M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G. <strong>Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.</strong> Nature Genet. 39: 1318-1320, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906623</a>] [<a href="https://doi.org/10.1038/ng.2007.4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906623">Salmon Hillbertz et al. (2007)</a> assumed a genetic model in which (i) ridgeless dogs are homozygous (r/r) for the wildtype allele, (ii) ridged dogs without dermoid sinus are heterozygous or homozygous for the Ridge allele (R/r or R/R), and (iii) ridged dogs with dermoid sinus are homozygous R/R. Neither ridgeless dogs or those with dermoid sinus are allowed for breeding by the Rhodesian ridgeback clubs. This leads to overdominance, because the heterozygote is the favored genotype: it expresses the ridge and has a low incidence of dermoid sinus. The problem with dermoid sinus could be virtually eliminated by allowing ridgeless dogs in breeding and by avoiding mating between ridged dogs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906623" 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 zebrafish, mechanosensory organs called neuromasts are deposited at regular intervals by the migrating posterior lateral line (pLL) primordium. The pLL primordium is organized into polarized rosettes representing protoneuromasts, each with a central atoh1a-positive focus of mechanosensory precursors. <a href="#8" class="mim-tip-reference" title="Nechiporuk, A., Raible, D. W. <strong>FGF-dependent mechanosensory organ patterning in zebrafish.</strong> Science 320: 1774-1777, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583612</a>] [<a href="https://doi.org/10.1126/science.1156547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18583612">Nechiporuk and Raible (2008)</a> showed that rosettes form cyclically from a progenitor pool at the leading zone of the primordium as neuromasts are deposited from the trailing region. Fgf3 and Fgf10 (<a href="/entry/602115">602115</a>) signals localized to the leading zone are required for rosette formation, atoh1a expression, and primordium migration. <a href="#8" class="mim-tip-reference" title="Nechiporuk, A., Raible, D. W. <strong>FGF-dependent mechanosensory organ patterning in zebrafish.</strong> Science 320: 1774-1777, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583612</a>] [<a href="https://doi.org/10.1126/science.1156547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18583612">Nechiporuk and Raible (2008)</a> proposed that the fibroblast growth factor source controls primordium organization, which, in turn, regulates the periodicity of neuromast deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18583612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Turkish family with 5 affected individuals in 3 sibships, <a href="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al. (2007)</a> demonstrated that an autosomal syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with complete absence of inner ear structures (Michel aplasia) (<a href="/entry/610706">610706</a>) was caused by a missense mutation in the FGF3 gene: 466T-C (S156P). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236138" 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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<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> rs121917704 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917704;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/rs121917704?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=rs121917704" 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=rs121917704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a consanguineous Turkish family, <a href="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al. (2007)</a> found that a form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia (<a href="/entry/610706">610706</a>) was caused by a homozygous 310C-T transition in the FGF3 gene, resulting in an arg104-to-ter (R104X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236138" 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 4-year-old Italian girl with microtia, microdontia, and sensorineural hearing loss, <a href="#12" class="mim-tip-reference" title="Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A. <strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong> Am. J. Med. Genet. 155A: 1096-1101, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>] [<a href="https://doi.org/10.1002/ajmg.a.33962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21480479">Sensi et al. (2011)</a> identified compound heterozygosity for R104X and a tyr49-to-cys (Y49C; <a href="#0007">164950.0007</a>) substitution at a highly conserved residue in the FGF3 gene. Her unaffected mother, who was heterozygous for the R104X mutation, had a history of ear surgery for a defect said to be similar to that of her affected daughter (no photographs were available). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" 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 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</strong>
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<p>In a Turkish family, <a href="#14" class="mim-tip-reference" title="Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N. <strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong> Am. J. Hum. Genet. 80: 338-344, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236138">Tekin et al. (2007)</a> described a single case of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia (<a href="/entry/610706">610706</a>). The authors identified a 1-bp deletion in the FGF3 gene: 616delG. The mutation causes a frameshift starting from codon 206 resulting in the production of a completely altered protein that terminates after 116 codons (Val206SfsTer117). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236138" 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 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</strong>
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<p>In 21 affected individuals from a large consanguineous Saudi Arabian family with autosomal recessive deafness, microtia, and microdontia (<a href="/entry/610706">610706</a>), <a href="#1" class="mim-tip-reference" title="Alsmadi, O., Meyer, B. F., Alkuraya, F, Wakil, S., Alkayal, F., Al-Saud, H., Ramzan, K., Al-Sayed, M. <strong>Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).</strong> Europ. J. Hum. Genet. 17: 14-21, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18701883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18701883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18701883[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18701883">Alsmadi et al. (2009)</a> identified a homozygous 196G-T transversion in the FGF3 gene, resulting in a gly66-to-cys (G66C) substitution in a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18701883" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121917706 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917706;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=rs121917706" 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=rs121917706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected sibs of a consanguineous Turkish family with autosomal recessive deafness, microtia, and microdontia (<a href="/entry/610706">610706</a>), <a href="#15" class="mim-tip-reference" title="Tekin, M., Ozturkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroglu, L., Incesulu, A., Yuksel Konuk, E. B., Hasanefendioglu Bayrak, A., Senturk, S., Cebeci, I., Utine, G. E., Tuncbilek, E., Nance, W. E., Duman, D. <strong>Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.</strong> Clin. Genet. 73: 554-565, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18435799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18435799</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01004.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18435799">Tekin et al. (2008)</a> identified a homozygous 17T-C transition in the FGF3 gene, resulting in a leu6-to-pro (L6P) substitution within the signal site and predicted to impair protein secretion. The mutation was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18435799" 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>.0006 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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">rs281860302 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860302;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=rs281860302" 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=rs281860302" 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=RCV000014854" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014854" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014854</a>
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<p>In a Turkish girl, born of first-cousin parents, with autosomal recessive deafness, microtia, and microdontia (<a href="/entry/610706">610706</a>), <a href="#15" class="mim-tip-reference" title="Tekin, M., Ozturkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroglu, L., Incesulu, A., Yuksel Konuk, E. B., Hasanefendioglu Bayrak, A., Senturk, S., Cebeci, I., Utine, G. E., Tuncbilek, E., Nance, W. E., Duman, D. <strong>Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.</strong> Clin. Genet. 73: 554-565, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18435799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18435799</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01004.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18435799">Tekin et al. (2008)</a> identified a homozygous 1-bp deletion (254delT) in exon 2 of the FGF3 gene, predicted to result in premature termination (Ile85MetfsTer15). The mutation was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18435799" 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>.0007 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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">rs281860300 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860300;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=rs281860300" 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=rs281860300" 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=RCV000022692 OR RCV001851999" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022692, RCV001851999" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022692...</a>
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<p>For discussion of the tyr49-to-cys (Y49C) mutation in the FGF3 gene that was found in compound heterozygous state in a patient with microtia, microdontia, and sensorineural hearing loss (<a href="/entry/610706">610706</a>) by <a href="#12" class="mim-tip-reference" title="Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A. <strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong> Am. J. Med. Genet. 155A: 1096-1101, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>] [<a href="https://doi.org/10.1002/ajmg.a.33962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21480479">Sensi et al. (2011)</a>, see <a href="#0002">164950.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" 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>.0008 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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">rs281860306 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860306;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=rs281860306" 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=rs281860306" 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=RCV000022693" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022693" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022693</a>
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<p>In an Albanian brother and sister, aged 12 and 9 years, respectively, with microtia, microdontia, and sensorineural hearing loss (<a href="/entry/610706">610706</a>), <a href="#12" class="mim-tip-reference" title="Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A. <strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong> Am. J. Med. Genet. 155A: 1096-1101, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>] [<a href="https://doi.org/10.1002/ajmg.a.33962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21480479">Sensi et al. (2011)</a> identified compound heterozygosity for mutations in the FGF3 gene: a 317A-G transition in exon 2, resulting in a tyr106-to-cys (Y106C) substitution at a highly conserved residue, and a 2-bp deletion (457_458delTG; <a href="#0009">164950.0009</a>) in exon 3, resulting in a frameshift that was predicted to cause a premature termination codon (Trp153ValfsTer51). The unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in 50 controls of the same European background. CT scan of the petrous bones revealed bilateral involvement of middle ear as well as inner ear structures in both sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" 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>.0009 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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">rs281860307 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860307;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=rs281860307" 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=rs281860307" 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=RCV000022694" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022694" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022694</a>
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<p>For discussion of the 2-bp deletion in the FGF3 gene (457_458delTG) that was found in compound heterozygous state in sibs with microtia, microdontia, and sensorineural hearing loss (<a href="/entry/610706">610706</a>) by <a href="#12" class="mim-tip-reference" title="Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A. <strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong> Am. J. Med. Genet. 155A: 1096-1101, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>] [<a href="https://doi.org/10.1002/ajmg.a.33962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21480479">Sensi et al. (2011)</a>, see <a href="#0008">164950.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" 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>REFERENCES</strong>
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<a id="Alsmadi2009" class="mim-anchor"></a>
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Alsmadi, O., Meyer, B. F., Alkuraya, F, Wakil, S., Alkayal, F., Al-Saud, H., Ramzan, K., Al-Sayed, M.
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<strong>Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).</strong>
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Europ. J. Hum. Genet. 17: 14-21, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18701883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18701883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18701883[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=18701883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.141" target="_blank">Full Text</a>]
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Brookes, S., Smith, R., Casey, G., Dickson, C., Peters, G.
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<strong>Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells.</strong>
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Oncogene 4: 429-436, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2470007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2470007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2470007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Casey, G., Smith, R., McGillivray, D., Peters, G., Dickson, C.
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<strong>Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene.</strong>
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Molec. Cell. Biol. 6: 502-510, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3023852" 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/10.1128/mcb.6.2.502-510.1986" target="_blank">Full Text</a>]
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Dickson, C., Peters, G.
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<strong>Potential oncogene product related to growth factors.</strong>
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Nature 326: 833, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3574458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3574458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3574458" 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/10.1038/326833a0" target="_blank">Full Text</a>]
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Frenz, D. A., Liu, W., Cvekl, A., Xie, Q., Wassef, L., Quadro, L., Niederreither, K., Maconochie, M., Shanske, A.
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<strong>Retinoid signaling in inner ear development: a 'Goldilocks' phenomenon.</strong>
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Am. J. Med. Genet. 152A: 2947-2961, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21108385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21108385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21108385[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=21108385" 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.33670" target="_blank">Full Text</a>]
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<a id="Gregory-Evans2007" class="mim-anchor"></a>
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<p class="mim-text-font">
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Gregory-Evans, C. Y., Moosajee, M., Hodges, M. D., Mackay, D. S., Game, L., Vargesson, N., Bloch-Zupan, A., Ruschendorf, F., Santos-Pinto, L., Wackens, G., Gregory-Evans, K.
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<strong>SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17656375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17656375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17656375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm204" target="_blank">Full Text</a>]
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<a id="Martinez-Morales2005" class="mim-anchor"></a>
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Martinez-Morales, J.-R., Del Bene, F., Nica, G., Hammerschmidt, M., Bovolenta, P., Wittbrodt, J.
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<strong>Differentiation of the vertebrate retina is coordinated by an FGF signaling center.</strong>
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Dev. Cell 8: 565-574, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15809038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15809038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15809038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2005.01.022" target="_blank">Full Text</a>]
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<a id="Nechiporuk2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nechiporuk, A., Raible, D. W.
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<strong>FGF-dependent mechanosensory organ patterning in zebrafish.</strong>
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Science 320: 1774-1777, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18583612" 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/10.1126/science.1156547" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Nusse1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nusse, R., Brown, A., Papkoff, J., Scambler, P., Shackleford, G., McMahon, A., Moon, R., Varmus, H.
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<strong>A new nomenclature for int-1 and related genes: the Wnt gene family. (Letter)</strong>
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Cell 64: 231-232, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1846319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1846319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1846319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90633-a" target="_blank">Full Text</a>]
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<a id="Represa1991" class="mim-anchor"></a>
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Represa, J., Leon, Y., Miner, C., Giraldez, F.
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<strong>The int-2 proto-oncogene is responsible for induction of the inner ear.</strong>
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Nature 353: 561-563, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1922362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1922362</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1922362" 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/10.1038/353561a0" target="_blank">Full Text</a>]
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<a id="Salmon Hillbertz2007" class="mim-anchor"></a>
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Salmon Hillbertz, N. H. C., Isaksson, M., Karlsson, E. K., Hellmen, E., Pielberg, G. R., Savolainen, P., Wade, C. M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G.
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<strong>Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.</strong>
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Nature Genet. 39: 1318-1320, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906623" 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/ng.2007.4" target="_blank">Full Text</a>]
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<a id="Sensi2011" class="mim-anchor"></a>
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Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A.
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<strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong>
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Am. J. Med. Genet. 155A: 1096-1101, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21480479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21480479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21480479" 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.33962" target="_blank">Full Text</a>]
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<a id="Tai2006" class="mim-anchor"></a>
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Tai, A. L. S., Sham, J. S. T., Xie, D., Fang, Y., Wu, Y.-L., Hu, L., Deng, W., Tsao, G. S. W., Qiao, G.-B., Cheung, A. L. M., Guan, X.-Y.
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<strong>Co-overexpression of fibroblast growth factor 3 and epidermal growth factor receptor is correlated with the development of nonsmall cell lung carcinoma.</strong>
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Cancer 106: 146-155, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16329133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16329133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16329133" 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/cncr.21581" target="_blank">Full Text</a>]
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<a id="Tekin2007" class="mim-anchor"></a>
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Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N.
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<strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong>
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Am. J. Hum. Genet. 80: 338-344, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236138[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=17236138" 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/10.1086/510920" target="_blank">Full Text</a>]
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<a id="Tekin2008" class="mim-anchor"></a>
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Tekin, M., Ozturkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroglu, L., Incesulu, A., Yuksel Konuk, E. B., Hasanefendioglu Bayrak, A., Senturk, S., Cebeci, I., Utine, G. E., Tuncbilek, E., Nance, W. E., Duman, D.
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<strong>Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.</strong>
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Clin. Genet. 73: 554-565, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18435799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18435799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18435799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.01004.x" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Matthew B. Gross - updated : 09/24/2024
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Patricia A. Hartz - updated : 12/22/2011<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 11/30/2009<br>Cassandra L. Kniffin - updated : 4/2/2009<br>Ada Hamosh - updated : 7/17/2008<br>Victor A. McKusick - updated : 11/20/2007<br>Victor A. McKusick - updated : 1/17/2007<br>Marla J. F. O'Neill - updated : 4/7/2006<br>Patricia A. Hartz - updated : 5/12/2005<br>Rebekah S. Rasooly - updated : 2/5/1999
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Victor A. McKusick : 6/25/1986
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alopez : 06/06/2022<br>alopez : 12/13/2021<br>carol : 08/23/2016<br>carol : 08/19/2015<br>carol : 8/19/2015<br>mcolton : 8/10/2015<br>carol : 9/17/2013<br>carol : 6/20/2012<br>mgross : 12/22/2011<br>terry : 12/22/2011<br>wwang : 8/23/2011<br>terry : 8/22/2011<br>carol : 5/18/2010<br>wwang : 12/17/2009<br>terry : 11/30/2009<br>wwang : 7/21/2009<br>wwang : 4/16/2009<br>ckniffin : 4/6/2009<br>ckniffin : 4/2/2009<br>alopez : 7/17/2008<br>terry : 7/17/2008<br>alopez : 12/7/2007<br>terry : 11/20/2007<br>carol : 6/12/2007<br>alopez : 1/19/2007<br>alopez : 1/19/2007<br>terry : 1/17/2007<br>wwang : 4/7/2006<br>terry : 5/12/2005<br>ckniffin : 8/26/2002<br>carol : 1/8/2002<br>alopez : 2/5/1999<br>psherman : 11/23/1998<br>psherman : 11/23/1998<br>psherman : 11/21/1998<br>psherman : 4/15/1998<br>joanna : 6/19/1997<br>mark : 9/15/1996<br>mark : 4/1/1996<br>carol : 5/6/1994<br>terry : 5/2/1994<br>carol : 11/12/1993<br>supermim : 3/19/1992<br>supermim : 3/16/1992<br>carol : 2/24/1992
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FIBROBLAST GROWTH FACTOR 3; FGF3
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ONCOGENE INT2; INT2<br />
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V-INT2 MURINE MAMMARY TUMOR VIRUS INTEGRATION SITE ONCOGENE HOMOLOG
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 2, INCLUDED
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FGF3</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>SNOMEDCT:</strong> 702360007;
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</span>
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</p>
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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>
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<em>
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Cytogenetic location: 11q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:69,809,968-69,819,416 </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="1">
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<span class="mim-font">
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11q13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Deafness, congenital with inner ear agenesis, microtia, and microdontia
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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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610706
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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>FGF3 is involved in inner ear development (Represa et al., 1991; Tekin et al., 2007). </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>Like Int1 (see 164820), Int2 is an oncogene implicated in mouse mammary carcinoma. By low-stringency hybridization, Casey et al. (1986) found homologous genes in a variety of mammalian species, including humans, but not in other classes or phyla. In 9 primary human breast tumors, 3 breast tumor cell lines, and 3 normal persons, no evidence of gross amplification or rearrangement of the INT2 locus was found. Three RFLPs were observed. </p><p>Brookes et al. (1989) determined that the predicted 239-amino acid INT2 protein is 89% identical to mouse Int2 over the first 217 residues, but the C terminus is completely divergent. </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>Gene Structure</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>Brookes et al. (1989) reported that the INT2 gene contains 3 exons which correspond to those in mouse Int2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By a combination of in situ and somatic cell hybridization, Casey et al. (1986) mapped the INT2 gene to 11q13. </p><p>As pointed out by Nusse et al. (1991), the INT1, INT2, and INT3 (164951) genes are fundamentally unrelated. They were given similar designations because they shared in common the fact that they were activated in some mammary tumors by integration of MMTV proviruses. The INT2 gene encodes a member of the fibroblast growth factor (FGF) family (Dickson and Peters, 1987). Thus, the similarity in name between INT1 (on 12q) and INT2 (on 11q) cannot be taken as further evidence of homeology of chromosomes 11 and 12. The existence of fibroblast growth factor-6 (134921) on 12p13 may reflect homeology. </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>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">
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<p>Fibroblast growth factors have been associated with mesoderm induction in the amphibian embryo, and INT2 has a distinct pattern of expression throughout development in vertebrates. In the mouse embryo, Int2 transcripts were detected in the rhombencephalon at a developmental stage when the induction of the inner ear occurs. Represa et al. (1991) provided direct evidence that Int2 constitutes a signal for the induction of the otic vesicle, the primordium of the inner ear: the formation of the otic vesicle was inhibited by antisense oligonucleotides targeted to the secreted form of Int2, and by antibodies against Int2 oncoproteins; and basic FGF can mimic the inductive signal in the absence of the rhombencephalon. Congenital deafness due to mutation in the INT2 gene could be sought by identifying a form of deafness that maps to 11q. Examples of oncogenes or tumor suppressor genes that are known also to be 'teratogenes' include WT1 (607102), KIT (164920), GLI3 (165240), PAX3 (606597), and RET (164761). </p><p>Using immunohistochemistry with a tissue microarray containing 406 nonsmall cell lung cancer (see NSCLC; 211980) samples, Tai et al. (2006) documented overexpression of FGF3 and EGFR (131550) in 61% and 69% of samples, respectively. They found significant correlation (p less than 0.001) between overexpression of EGFR and of FGF3. Tai et al. (2006) suggested that co-overexpression of EGFR and FGF3 may play an important role in the pathogenesis of lung carcinoma. </p><p><strong><em>Reviews</em></strong></p><p>
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In their review, Frenz et al. (2010) noted that there is a critical period when development of the inner ear is dependent upon signaling through retinoic acid and its receptors (see 180240). They presented a model whereby either over- or underavailability of retinoic acid disrupts FGF3 and FGF10 (602115) activation, leading to altered expression of the downstream target genes DLX5 (600028) and DLX6 (600030) and defects in inner ear development. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tekin et al. (2007) identified 9 individuals from 3 unrelated Turkish families with a novel autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with complete absence of inner ear structures (Michel aplasia) (610706). Using a microarray method for genomewide linkage analysis searching for homozygous SNP blocks that were shared by all affected members, a region on 11q13 came into consideration. All 5 affected individuals in 1 family were homozygous for 9 consecutive SNPs in the region of 11q13 that contains the FGF3 gene. Because of overlap features of the syndrome in these patients to the LADD syndrome (149730), Tekin et al. (2007) considered that homozygous mutation in a fibroblast growth factor might be responsible. A homozygous missense mutation in FGF3, ser156 to pro (164950.0001), was found in 1 family; in the second family, a homozygous nonsense mutation, arg104 to ter (164950.0002), was found; and in the third family, a homozygous 1-bp deletion, 616delG (164950.0003), was found. </p><p>In affected members of a large consanguineous Saudi Arabian family with deafness, microtia, and microdontia, Alsmadi et al. (2009) identified a homozygous mutation in the FGF3 gene (164950.0004). </p><p>In 2 families with otodental dysplasia (166750) and 1 with otodental dysplasia and coloboma Gregory-Evans et al. (2007) identified overlapping hemizygous microdeletions on chromosome 11q13, the smallest of which spanned 43 kb from rs9666584 in the 5-prime untranslated region of the FGF4 gene (164980) to rs41408348 in the 5-prime untranslated region of the FGF3 gene. In the family with otodental dysplasia and coloboma, the microdeletion spanned 490 kb and encompassed the FADD gene (602457). Gregory-Evans et al. (2007) suggested that FGF3 haploinsufficiency is likely the cause of otodental syndrome and that FADD haploinsufficiency accounts for the associated ocular coloboma. </p><p>Sensi et al. (2011) reported 2 families with deafness, microtia, and microdontia, 1 from Albania and 1 from Italy, in which affected individuals were compound heterozygous for mutations in the FGF3 gene (164950.0002 and 164950.0007-164950.0009), respectively. The authors stated that these were the first compound heterozygotes for mutations in the FGF3 gene to be reported. </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>Animal Model</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>Martinez-Morales et al. (2005) demonstrated that Fgf3 and Fgf8 (600483) cooperate in initiating neuronal differentiation in the zebrafish retina. </p><p>Dogs with a characteristic dorsal hair ridge seem to have been present in both Africa and Asia long before European colonization. The Rhodesian ridgeback dog, first registered in South Africa in 1924, is most likely a blend of European dogs (brought to Africa by early colonizers) and an extinct indigenous breed of Africa. There are Thai and Vietnamese dogs with a dorsal hair ridge closely resembling the one found in Rhodesian ridgeback dogs. Salmon Hillbertz et al. (2007) performed histology of the skin from a ridged dog, which showed lateral orientation of the hair follicles and sebaceous glands; in contrast, skin from ridgeless dogs showed caudally oriented hair follicles. Ridgeback dogs are affected by the congenital malformation dermoid sinus, which closely resembles a neural tube defect in humans usually called dermal sinus (see 600145). Salmon Hillbertz et al. (2007) showed that the causative mutation in ridgeback dogs is a 133-kb duplication involving 3 fibroblast growth factor genes: FGF3, FGF4 (164980), and FGF19 (603891), as well as ORAOV1 (607224) and the 3-prime end of the CCND1 gene (168461). All of these genes are syntenic in the human on the long arm of chromosome 11; they are located on chromosome 18 of the dog. In these studies, Salmon Hillbertz et al. (2007) assumed a genetic model in which (i) ridgeless dogs are homozygous (r/r) for the wildtype allele, (ii) ridged dogs without dermoid sinus are heterozygous or homozygous for the Ridge allele (R/r or R/R), and (iii) ridged dogs with dermoid sinus are homozygous R/R. Neither ridgeless dogs or those with dermoid sinus are allowed for breeding by the Rhodesian ridgeback clubs. This leads to overdominance, because the heterozygote is the favored genotype: it expresses the ridge and has a low incidence of dermoid sinus. The problem with dermoid sinus could be virtually eliminated by allowing ridgeless dogs in breeding and by avoiding mating between ridged dogs. </p><p>In zebrafish, mechanosensory organs called neuromasts are deposited at regular intervals by the migrating posterior lateral line (pLL) primordium. The pLL primordium is organized into polarized rosettes representing protoneuromasts, each with a central atoh1a-positive focus of mechanosensory precursors. Nechiporuk and Raible (2008) showed that rosettes form cyclically from a progenitor pool at the leading zone of the primordium as neuromasts are deposited from the trailing region. Fgf3 and Fgf10 (602115) signals localized to the leading zone are required for rosette formation, atoh1a expression, and primordium migration. Nechiporuk and Raible (2008) proposed that the fibroblast growth factor source controls primordium organization, which, in turn, regulates the periodicity of neuromast deposition. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, SER156PRO
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<br />
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SNP: rs121917703,
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ClinVar: RCV000014849
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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 consanguineous Turkish family with 5 affected individuals in 3 sibships, Tekin et al. (2007) demonstrated that an autosomal syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with complete absence of inner ear structures (Michel aplasia) (610706) was caused by a missense mutation in the FGF3 gene: 466T-C (S156P). </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>.0002 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, ARG104TER
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<br />
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SNP: rs121917704,
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gnomAD: rs121917704,
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ClinVar: RCV000014850, RCV003398511, RCV003441717
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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 consanguineous Turkish family, Tekin et al. (2007) found that a form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia (610706) was caused by a homozygous 310C-T transition in the FGF3 gene, resulting in an arg104-to-ter (R104X) substitution. </p><p>In a 4-year-old Italian girl with microtia, microdontia, and sensorineural hearing loss, Sensi et al. (2011) identified compound heterozygosity for R104X and a tyr49-to-cys (Y49C; 164950.0007) substitution at a highly conserved residue in the FGF3 gene. Her unaffected mother, who was heterozygous for the R104X mutation, had a history of ear surgery for a defect said to be similar to that of her affected daughter (no photographs were available). </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 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, 1-BP DEL, 616G
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<br />
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SNP: rs281860305,
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gnomAD: rs281860305,
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ClinVar: RCV000014851
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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 Turkish family, Tekin et al. (2007) described a single case of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia (610706). The authors identified a 1-bp deletion in the FGF3 gene: 616delG. The mutation causes a frameshift starting from codon 206 resulting in the production of a completely altered protein that terminates after 116 codons (Val206SfsTer117). </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 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, GLY66CYS
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<br />
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SNP: rs121917705,
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ClinVar: RCV000014852
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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 21 affected individuals from a large consanguineous Saudi Arabian family with autosomal recessive deafness, microtia, and microdontia (610706), Alsmadi et al. (2009) identified a homozygous 196G-T transversion in the FGF3 gene, resulting in a gly66-to-cys (G66C) substitution in a highly conserved residue. </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>.0005 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, LEU6PRO
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<br />
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SNP: rs121917706,
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ClinVar: RCV000014853
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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 3 affected sibs of a consanguineous Turkish family with autosomal recessive deafness, microtia, and microdontia (610706), Tekin et al. (2008) identified a homozygous 17T-C transition in the FGF3 gene, resulting in a leu6-to-pro (L6P) substitution within the signal site and predicted to impair protein secretion. The mutation was not found in 200 controls. </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>.0006 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, 1-BP DEL, 254T
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<br />
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SNP: rs281860302,
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ClinVar: RCV000014854
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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 Turkish girl, born of first-cousin parents, with autosomal recessive deafness, microtia, and microdontia (610706), Tekin et al. (2008) identified a homozygous 1-bp deletion (254delT) in exon 2 of the FGF3 gene, predicted to result in premature termination (Ile85MetfsTer15). The mutation was not found in 200 controls. </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>.0007 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</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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FGF3, TYR49CYS
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<br />
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SNP: rs281860300,
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ClinVar: RCV000022692, RCV001851999
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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>For discussion of the tyr49-to-cys (Y49C) mutation in the FGF3 gene that was found in compound heterozygous state in a patient with microtia, microdontia, and sensorineural hearing loss (610706) by Sensi et al. (2011), see 164950.0002. </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>
|
|
<span class="mim-font">
|
|
<strong>.0008 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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FGF3, TYR106CYS
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<br />
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SNP: rs281860306,
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|
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ClinVar: RCV000022693
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an Albanian brother and sister, aged 12 and 9 years, respectively, with microtia, microdontia, and sensorineural hearing loss (610706), Sensi et al. (2011) identified compound heterozygosity for mutations in the FGF3 gene: a 317A-G transition in exon 2, resulting in a tyr106-to-cys (Y106C) substitution at a highly conserved residue, and a 2-bp deletion (457_458delTG; 164950.0009) in exon 3, resulting in a frameshift that was predicted to cause a premature termination codon (Trp153ValfsTer51). The unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in 50 controls of the same European background. CT scan of the petrous bones revealed bilateral involvement of middle ear as well as inner ear structures in both sibs. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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FGF3, 2-BP DEL, 457TG
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<br />
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|
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SNP: rs281860307,
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ClinVar: RCV000022694
|
|
|
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|
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion in the FGF3 gene (457_458delTG) that was found in compound heterozygous state in sibs with microtia, microdontia, and sensorineural hearing loss (610706) by Sensi et al. (2011), see 164950.0008. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
|
|
</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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Alsmadi, O., Meyer, B. F., Alkuraya, F, Wakil, S., Alkayal, F., Al-Saud, H., Ramzan, K., Al-Sayed, M.
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<strong>Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).</strong>
|
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Europ. J. Hum. Genet. 17: 14-21, 2009.
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[PubMed: 18701883]
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[Full Text: https://doi.org/10.1038/ejhg.2008.141]
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<p class="mim-text-font">
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|
Brookes, S., Smith, R., Casey, G., Dickson, C., Peters, G.
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<strong>Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells.</strong>
|
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Oncogene 4: 429-436, 1989.
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[PubMed: 2470007]
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<p class="mim-text-font">
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Casey, G., Smith, R., McGillivray, D., Peters, G., Dickson, C.
|
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<strong>Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene.</strong>
|
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Molec. Cell. Biol. 6: 502-510, 1986.
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[PubMed: 3023852]
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[Full Text: https://doi.org/10.1128/mcb.6.2.502-510.1986]
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<p class="mim-text-font">
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Dickson, C., Peters, G.
|
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<strong>Potential oncogene product related to growth factors.</strong>
|
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Nature 326: 833, 1987.
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[PubMed: 3574458]
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[Full Text: https://doi.org/10.1038/326833a0]
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<li>
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<p class="mim-text-font">
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Frenz, D. A., Liu, W., Cvekl, A., Xie, Q., Wassef, L., Quadro, L., Niederreither, K., Maconochie, M., Shanske, A.
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<strong>Retinoid signaling in inner ear development: a 'Goldilocks' phenomenon.</strong>
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Am. J. Med. Genet. 152A: 2947-2961, 2010.
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[PubMed: 21108385]
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[Full Text: https://doi.org/10.1002/ajmg.a.33670]
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<p class="mim-text-font">
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Gregory-Evans, C. Y., Moosajee, M., Hodges, M. D., Mackay, D. S., Game, L., Vargesson, N., Bloch-Zupan, A., Ruschendorf, F., Santos-Pinto, L., Wackens, G., Gregory-Evans, K.
|
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<strong>SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.</strong>
|
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Hum. Molec. Genet. 16: 2482-2493, 2007.
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[PubMed: 17656375]
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[Full Text: https://doi.org/10.1093/hmg/ddm204]
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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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Martinez-Morales, J.-R., Del Bene, F., Nica, G., Hammerschmidt, M., Bovolenta, P., Wittbrodt, J.
|
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<strong>Differentiation of the vertebrate retina is coordinated by an FGF signaling center.</strong>
|
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Dev. Cell 8: 565-574, 2005.
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[PubMed: 15809038]
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[Full Text: https://doi.org/10.1016/j.devcel.2005.01.022]
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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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Nechiporuk, A., Raible, D. W.
|
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<strong>FGF-dependent mechanosensory organ patterning in zebrafish.</strong>
|
|
Science 320: 1774-1777, 2008.
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|
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[PubMed: 18583612]
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[Full Text: https://doi.org/10.1126/science.1156547]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nusse, R., Brown, A., Papkoff, J., Scambler, P., Shackleford, G., McMahon, A., Moon, R., Varmus, H.
|
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<strong>A new nomenclature for int-1 and related genes: the Wnt gene family. (Letter)</strong>
|
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Cell 64: 231-232, 1991.
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|
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[PubMed: 1846319]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90633-a]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Represa, J., Leon, Y., Miner, C., Giraldez, F.
|
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<strong>The int-2 proto-oncogene is responsible for induction of the inner ear.</strong>
|
|
Nature 353: 561-563, 1991.
|
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|
|
|
[PubMed: 1922362]
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[Full Text: https://doi.org/10.1038/353561a0]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Salmon Hillbertz, N. H. C., Isaksson, M., Karlsson, E. K., Hellmen, E., Pielberg, G. R., Savolainen, P., Wade, C. M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G.
|
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<strong>Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.</strong>
|
|
Nature Genet. 39: 1318-1320, 2007.
|
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|
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[PubMed: 17906623]
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|
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[Full Text: https://doi.org/10.1038/ng.2007.4]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A., Martini, A.
|
|
<strong>LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.</strong>
|
|
Am. J. Med. Genet. 155A: 1096-1101, 2011.
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|
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[PubMed: 21480479]
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|
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[Full Text: https://doi.org/10.1002/ajmg.a.33962]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Tai, A. L. S., Sham, J. S. T., Xie, D., Fang, Y., Wu, Y.-L., Hu, L., Deng, W., Tsao, G. S. W., Qiao, G.-B., Cheung, A. L. M., Guan, X.-Y.
|
|
<strong>Co-overexpression of fibroblast growth factor 3 and epidermal growth factor receptor is correlated with the development of nonsmall cell lung carcinoma.</strong>
|
|
Cancer 106: 146-155, 2006.
|
|
|
|
|
|
[PubMed: 16329133]
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|
|
[Full Text: https://doi.org/10.1002/cncr.21581]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Tekin, M., Hismi, B. O., Fitoz, S., Ozdag, H., Cengiz, F. B., Sirmci, A., Aslan, I., Inceoglu, B., Yuksel-Konuk, E. B., Yilmaz, S. T., Yasun, O., Akar, N.
|
|
<strong>Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.</strong>
|
|
Am. J. Hum. Genet. 80: 338-344, 2007.
|
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|
|
[PubMed: 17236138]
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[Full Text: https://doi.org/10.1086/510920]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tekin, M., Ozturkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroglu, L., Incesulu, A., Yuksel Konuk, E. B., Hasanefendioglu Bayrak, A., Senturk, S., Cebeci, I., Utine, G. E., Tuncbilek, E., Nance, W. E., Duman, D.
|
|
<strong>Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.</strong>
|
|
Clin. Genet. 73: 554-565, 2008.
|
|
|
|
|
|
[PubMed: 18435799]
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01004.x]
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</p>
|
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
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</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 09/24/2024<br>Patricia A. Hartz - updated : 12/22/2011<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 11/30/2009<br>Cassandra L. Kniffin - updated : 4/2/2009<br>Ada Hamosh - updated : 7/17/2008<br>Victor A. McKusick - updated : 11/20/2007<br>Victor A. McKusick - updated : 1/17/2007<br>Marla J. F. O'Neill - updated : 4/7/2006<br>Patricia A. Hartz - updated : 5/12/2005<br>Rebekah S. Rasooly - updated : 2/5/1999
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|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/25/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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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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mgross : 09/24/2024<br>alopez : 06/06/2022<br>alopez : 12/13/2021<br>carol : 08/23/2016<br>carol : 08/19/2015<br>carol : 8/19/2015<br>mcolton : 8/10/2015<br>carol : 9/17/2013<br>carol : 6/20/2012<br>mgross : 12/22/2011<br>terry : 12/22/2011<br>wwang : 8/23/2011<br>terry : 8/22/2011<br>carol : 5/18/2010<br>wwang : 12/17/2009<br>terry : 11/30/2009<br>wwang : 7/21/2009<br>wwang : 4/16/2009<br>ckniffin : 4/6/2009<br>ckniffin : 4/2/2009<br>alopez : 7/17/2008<br>terry : 7/17/2008<br>alopez : 12/7/2007<br>terry : 11/20/2007<br>carol : 6/12/2007<br>alopez : 1/19/2007<br>alopez : 1/19/2007<br>terry : 1/17/2007<br>wwang : 4/7/2006<br>terry : 5/12/2005<br>ckniffin : 8/26/2002<br>carol : 1/8/2002<br>alopez : 2/5/1999<br>psherman : 11/23/1998<br>psherman : 11/23/1998<br>psherman : 11/21/1998<br>psherman : 4/15/1998<br>joanna : 6/19/1997<br>mark : 9/15/1996<br>mark : 4/1/1996<br>carol : 5/6/1994<br>terry : 5/2/1994<br>carol : 11/12/1993<br>supermim : 3/19/1992<br>supermim : 3/16/1992<br>carol : 2/24/1992
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