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Entry
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- *164874 - FORKHEAD BOX G1; FOXG1
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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">*164874</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/164874">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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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000176165;t=ENST00000313071" 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=2290" 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=164874" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000176165;t=ENST00000313071" 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_005249" 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_005249" 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=164874" 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=01283&isoform_id=01283_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/FOXG1" 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/516381,516383,939887,967048,29477086,32307177,119586382,152031604" 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/P55316" 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=2290" 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=ENSG00000176165;t=ENST00000313071" 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=FOXG1" 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=FOXG1" 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+2290" 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/FOXG1" 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:2290" 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/2290" 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=chr14&hgg_gene=ENST00000313071.7&hgg_start=28766787&hgg_end=28770277&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:3811" 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:3811" 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/foxg1" 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=164874[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=164874[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://www.deciphergenomics.org/gene/FOXG1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000176165" 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=FOXG1" 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=FOXG1" 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=FOXG1" 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=FOXG1&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/PA162388806" 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:3811" 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/FBgn0003430.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:1347464" 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/FOXG1#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:1347464" 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/2290/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=2290" 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=WBGene00001434;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-990415-267" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:164874" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</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:2290" 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=FOXG1&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> 702450004<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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164874
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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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FORKHEAD BOX G1; FOXG1
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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>
|
|
<span class="mim-font">
|
|
FORKHEAD BOX G1B; FOXG1B<br />
|
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FORKHEAD-LIKE 1; FKHL1<br />
|
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ONCOGENE QIN<br />
|
|
BRAIN FACTOR 1; BF1
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FOXG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FOXG1</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/14/145?start=-3&limit=10&highlight=145">14q12</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:28766787-28770277&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'})">14:28,766,787-28,770,277</a> </span>
|
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</em>
|
|
</strong>
|
|
<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>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/145?start=-3&limit=10&highlight=145">
|
|
14q12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Rett syndrome, congenital variant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613454"> 613454 </a>
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<p>The FOXG1 gene encodes a developmental transcription factor with repressor activities (<a href="#12" class="mim-tip-reference" title="Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U. <strong>Human brain factor 1, a new member of the fork head gene family.</strong> Genomics 21: 551-557, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959731</a>] [<a href="https://doi.org/10.1006/geno.1994.1313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959731">Murphy et al., 1994</a>; <a href="#8" class="mim-tip-reference" title="Li, J., Chang, H. W., Lai, E., Parker, E. J., Vogt, P. K. <strong>The oncogene qin codes for a transcriptional repressor.</strong> Cancer Res. 55: 5540-5544, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585630</a>]" pmid="7585630">Li et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7959731+7585630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The QIN gene was identified by <a href="#9" class="mim-tip-reference" title="Li, J., Vogt, P. K. <strong>The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head.</strong> Proc. Nat. Acad. Sci. 90: 4490-4494, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099441</a>] [<a href="https://doi.org/10.1073/pnas.90.10.4490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8099441">Li and Vogt (1993)</a> as the cell-derived insert in avian sarcoma virus-31 and is the putative oncogene of that virus. The QIN product belongs to a large family of transcription factors that includes the product of the homeotic gene forkhead (fkh) of Drosophila and hepatocyte nuclear factor-3 (HNF3; see HNF3A, <a href="/entry/602294">602294</a>) and brain factor-1 (BF1) of mammals. Members of the family, referred to as the fkh/HNF3 family, share a unique DNA-binding domain, the FKH box. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099441" 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>By analyzing cDNA clones that cross-hybridized with the FKH domain of the rat Hnf3a, <a href="#12" class="mim-tip-reference" title="Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U. <strong>Human brain factor 1, a new member of the fork head gene family.</strong> Genomics 21: 551-557, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959731</a>] [<a href="https://doi.org/10.1006/geno.1994.1313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959731">Murphy et al. (1994)</a> isolated 10 cDNAs from human fetal brain and human testis cDNA libraries. One of these cDNAs, which they called HFK1 (for human forkhead-1), encodes a putative 476-amino acid protein that shares 87.5% identity with rat Bf1 at the amino acid level. HFK1 was found to be highly conserved among mammalian species and possibly among birds. Northern blot analysis detected a 3.2-kb transcript in human and mouse fetal brain and adult mouse brain. In situ hybridization with sections of mouse embryo and human fetal brain demonstrated that HFK1 expression was restricted to the neuronal cells in the telencephalon, with strong expression in the developing dentate gyrus and hippocampus. <a href="#12" class="mim-tip-reference" title="Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U. <strong>Human brain factor 1, a new member of the fork head gene family.</strong> Genomics 21: 551-557, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959731</a>] [<a href="https://doi.org/10.1006/geno.1994.1313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959731">Murphy et al. (1994)</a> obtained 2 other cDNAs, which they called HFK2 (FOXG1A) and HFK3 (FOXG1C), that they considered to be closely related but distinct from HFK1. <a href="#16" class="mim-tip-reference" title="Wiese, S., Murphy, D. B., Schlung, A., Burfeind, P., Schmundt, D., Schnulle, V., Mattei, M.-G., Thies, U. <strong>The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.</strong> Biochim. Biophys. Acta 1262: 105-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599184</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00059-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599184">Wiese et al. (1995)</a> reported that FOXG1A, or BF2, was a duplicated copy of FOXG1B. However, by genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Bredenkamp, N., Seoighe, C., Illing, N. <strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong> Dev. Genes Evol. 217: 227-233, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>] [<a href="https://doi.org/10.1007/s00427-006-0128-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17260156">Bredenkamp et al. (2007)</a> determined that there is only a single FOXG1 gene, which corresponds to the FOXG1B sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7599184+7959731+17260156" 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="#14" class="mim-tip-reference" title="Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.-H., Kalscheuer, V. M. <strong>Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations, and microcephaly.</strong> Hum. Genet. 117: 536-544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133170</a>] [<a href="https://doi.org/10.1007/s00439-005-1310-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16133170">Shoichet et al. (2005)</a> identified 4 additional exons 3-prime to exon 1 of FOXG1. RT-PCR analysis isolated 4 splice variants that lack the last 113 nucleotides of FOXG1 exon 1 and have C-terminal ends defined by the additional exonic sequences. Northern blot analysis of human fetal brain detected transcripts of 8.5, 7.0, and 6.0 kb that were not present in adult brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16133170" 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="Bredenkamp, N., Seoighe, C., Illing, N. <strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong> Dev. Genes Evol. 217: 227-233, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>] [<a href="https://doi.org/10.1007/s00427-006-0128-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17260156">Bredenkamp et al. (2007)</a> found that FOXG1 was highly conserved among 6 mammalian and 3 reptilian species examined, with highest conservation in the DNA-binding and C-terminal domains. The N-terminal domain of mammalian FOXG1 contains an extended proline- and glutamine-rich region specific to mammals. <a href="#2" class="mim-tip-reference" title="Bredenkamp, N., Seoighe, C., Illing, N. <strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong> Dev. Genes Evol. 217: 227-233, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>] [<a href="https://doi.org/10.1007/s00427-006-0128-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17260156">Bredenkamp et al. (2007)</a> also identified conserved miR9 (MIRN9; see <a href="/entry/611186">611186</a>) and miR33 (see MIRN33A; <a href="/entry/612156">612156</a>) recognition sites in the FOXG1 3-prime UTR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17260156" 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="#16" class="mim-tip-reference" title="Wiese, S., Murphy, D. B., Schlung, A., Burfeind, P., Schmundt, D., Schnulle, V., Mattei, M.-G., Thies, U. <strong>The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.</strong> Biochim. Biophys. Acta 1262: 105-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599184</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00059-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599184">Wiese et al. (1995)</a> found that the human BF1 gene contains a 500-bp intron situated between exons encoding the DNA-binding domain II and the forkhead domain. <a href="#14" class="mim-tip-reference" title="Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.-H., Kalscheuer, V. M. <strong>Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations, and microcephaly.</strong> Hum. Genet. 117: 536-544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133170</a>] [<a href="https://doi.org/10.1007/s00439-005-1310-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16133170">Shoichet et al. (2005)</a> determined that the FOXG1 gene contains 5 exons. By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Bredenkamp, N., Seoighe, C., Illing, N. <strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong> Dev. Genes Evol. 217: 227-233, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>] [<a href="https://doi.org/10.1007/s00427-006-0128-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17260156">Bredenkamp et al. (2007)</a> determined that the FOXG1 gene contains no introns. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16133170+7599184+17260156" 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 analysis of rodent/human somatic cell hybrids and by fluorescence in situ hybridization, <a href="#6" class="mim-tip-reference" title="Kastury, K., Li, J., Druck, T., Su, H., Vogt, P. K., Croce, C. M., Huebner, K. <strong>The human homologue of the retroviral oncogene qin maps to chromosome 14q13.</strong> Proc. Nat. Acad. Sci. 91: 3616-3618, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8170957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8170957</a>] [<a href="https://doi.org/10.1073/pnas.91.9.3616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8170957">Kastury et al. (1994)</a> mapped the human QIN gene to chromosome 14q13. Using chromosomal in situ hybridization, <a href="#12" class="mim-tip-reference" title="Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U. <strong>Human brain factor 1, a new member of the fork head gene family.</strong> Genomics 21: 551-557, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959731</a>] [<a href="https://doi.org/10.1006/geno.1994.1313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959731">Murphy et al. (1994)</a> localized the HFK1 gene to chromosome 14q12. By isotopic in situ hybridization, <a href="#16" class="mim-tip-reference" title="Wiese, S., Murphy, D. B., Schlung, A., Burfeind, P., Schmundt, D., Schnulle, V., Mattei, M.-G., Thies, U. <strong>The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.</strong> Biochim. Biophys. Acta 1262: 105-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599184</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00059-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7599184">Wiese et al. (1995)</a> demonstrated that BF1 and the closely related BF2 gene map to chromosome 14q11-q13. However, by genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Bredenkamp, N., Seoighe, C., Illing, N. <strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong> Dev. Genes Evol. 217: 227-233, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>] [<a href="https://doi.org/10.1007/s00427-006-0128-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17260156">Bredenkamp et al. (2007)</a> found no evidence of multiple FOXG1 genes in the human genome and showed that the 3 reported FOXG1 sequences map to an identical interval of chromosome 14. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7599184+8170957+7959731+17260156" 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="#8" class="mim-tip-reference" title="Li, J., Chang, H. W., Lai, E., Parker, E. J., Vogt, P. K. <strong>The oncogene qin codes for a transcriptional repressor.</strong> Cancer Res. 55: 5540-5544, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585630</a>]" pmid="7585630">Li et al. (1995)</a> found that both the cellular QIN protein and viral QIN protein acted as transcriptional repressors. The major transcriptional repression domain mapped to amino acids 252 to 395 of viral QIN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7585630" 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 mouse postnatal cortex, <a href="#1" class="mim-tip-reference" title="Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. <strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong> Am. J. Hum. Genet. 83: 89-93, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18571142[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/10.1016/j.ajhg.2008.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571142">Ariani et al. (2008)</a> found overlapping expression of Foxg1 and Mecp2 (<a href="/entry/300005">300005</a>) in differentiating cortical compartments and neuronal subnuclear localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571142" 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 conditional inactivation in mice, <a href="#4" class="mim-tip-reference" title="Cargnin, F., Kwon, J.-S., Katzman, S., Chen, B., Lee, J. W., Lee, S.-K. <strong>FOXG1 orchestrates neocortical organization and cortico-cortical connections.</strong> Neuron 100: 1083-1096, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30392794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30392794</a>] [<a href="https://doi.org/10.1016/j.neuron.2018.10.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30392794">Cargnin et al. (2018)</a> found that Foxg1 action in cortical neurons was required for formation of cortical laminar structure, corpus callosum, and hippocampus, as well as in generation of cortical layers. Full gene dosage of Foxg1 in cortical neurons was needed to establish cortico-cortical projections, and loss of Foxg1 action in neurons led to deficits in midline glia that played an important role in establishing callosal projections. Examination of a subset of late-born neurons in cortices of conditional knockout mice revealed that Foxg1 controlled the timely integration of cortical pyramidal neurons to the upper layers and the navigation of callosal axons in cell-autonomous and Foxg1 dosage-sensitive manners. Chromatin immunoprecipitation-sequencing analysis revealed that Foxg1 and Rp58 (<a href="/entry/613617">613617</a>) formed a complex in cortical pyramidal neurons and controlled transcription of common target genes during cortex development. The Foxg1-Rp58 complex bound directly to and repressed a set of genes that controlled neuronal migration and axonal projection, including Robo1 (<a href="/entry/602430">602430</a>), Slit3 (<a href="/entry/603745">603745</a>), and reelin (RELN; <a href="/entry/600514">600514</a>), thereby orchestrating the timely integration of cortical neurons into the correct laminar position and subsequent callosal axon navigation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30392794" 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="Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.-H., Kalscheuer, V. M. <strong>Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations, and microcephaly.</strong> Hum. Genet. 117: 536-544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133170</a>] [<a href="https://doi.org/10.1007/s00439-005-1310-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16133170">Shoichet et al. (2005)</a> reported a girl with several mental retardation associated with complete agenesis of the corpus callosum and microcephaly associated with a balanced de novo translocation, t(2;14)(p22;q12) and a neighboring 720-kb inversion on chromosome 14q12. The cytogenetic changes disrupted the C terminus of splice variants of the FOXG1 gene. The patient's disorder was first noted at age 2 weeks, when she showed severe muscle rigidity. At 6 months, she was unable to lift her head and microcephaly was noted. At age 7 years, she was unable to sit or stand without assistance, had no language development, and had seizures and tetraplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16133170" 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 7 unrelated patients with mental retardation who were referred for genomewide array CGH analysis, <a href="#3" class="mim-tip-reference" title="Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., and 10 others. <strong>Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.</strong> Europ. J. Hum. Genet. 19: 102-107, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20736978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20736978</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20736978[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.2010.142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20736978">Brunetti-Pierri et al. (2011)</a> identified 7 different but overlapping duplications of chromosome 14q12. The duplications ranged in size from 3 to 14 Mb and the minimal common duplicated region included 3 genes: FOXG1, C14ORF32, and PRKD1 (<a href="/entry/605435">605435</a>). All patients had developmental delay, mental retardation, and absent or delayed speech, and 4 had infantile spasms or other seizures, including 2 with hypsarrhythmia (see <a href="/entry/613454">613454</a>). Otherwise, the features were highly variable, and although 4 had dysmorphic features, there was no recognizable pattern. <a href="#3" class="mim-tip-reference" title="Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., and 10 others. <strong>Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.</strong> Europ. J. Hum. Genet. 19: 102-107, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20736978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20736978</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20736978[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.2010.142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20736978">Brunetti-Pierri et al. (2011)</a> concluded that increased dosage of FOXG1 was the best candidate to explain the neurodevelopmental phenotypes in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20736978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Tohyama, J., Yamamoto, T., Hosoki, K., Nagasaki, K., Akasaka, N., Ohashi, T., Kobayashi, Y., Saitoh, S. <strong>West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.</strong> Am. J. Med. Genet. 155A: 2584-2588, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910242</a>] [<a href="https://doi.org/10.1002/ajmg.a.34224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910242">Tohyama et al. (2011)</a> reported a Japanese girl who developed infantile seizures and spasms at age 4 months with progression to hypsarrhythmia. Treatment with adrenocorticotropic hormone resulted in seizure control by age 6 months, but she had mild psychomotor delay and poor speech at age 6 years. Chromosome analysis revealed mosaicism for maternal uniparental disomy of chromosome 14q. Microarray-based CGH delineated an 11.2-Mb duplication of 14q11.2-q12, which contained 124 genes, including FOXG1. <a href="#15" class="mim-tip-reference" title="Tohyama, J., Yamamoto, T., Hosoki, K., Nagasaki, K., Akasaka, N., Ohashi, T., Kobayashi, Y., Saitoh, S. <strong>West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.</strong> Am. J. Med. Genet. 155A: 2584-2588, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910242</a>] [<a href="https://doi.org/10.1002/ajmg.a.34224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910242">Tohyama et al. (2011)</a> concluded that increased dosage of the FOXG1 gene was responsible for the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910242" 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 2 unrelated girls with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#1" class="mim-tip-reference" title="Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. <strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong> Am. J. Hum. Genet. 83: 89-93, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18571142[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/10.1016/j.ajhg.2008.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571142">Ariani et al. (2008)</a> identified 2 different heterozygous truncating mutations in the FOXG1 gene (<a href="#0001">164874.0001</a> and <a href="#0002">164874.0002</a>, respectively). Both girls had infantile onset of microcephaly, mental retardation, and peculiar jerky movements similar to that observed in classic Rett syndrome (RTT; <a href="/entry/312750">312750</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A. <strong>Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.</strong> J. Med. Genet. 47: 49-53, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578037</a>] [<a href="https://doi.org/10.1136/jmg.2009.067884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578037">Mencarelli et al. (2010)</a> identified 4 different heterozygous mutations in the FOXG1 gene (see, e.g., <a href="#0003">164874.0003</a>-<a href="#0004">164874.0004</a>) in 4 unrelated girls with the congenital variant of Rett syndrome. All had severe mental retardation with lack of speech and motor development and stereotypic movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. <strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong> J. Med. Genet. 47: 59-65, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19564653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19564653</a>] [<a href="https://doi.org/10.1136/jmg.2009.067355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19564653">Philippe et al. (2010)</a> identified 2 different de novo heterozygous mutations in the FOXG1 gene (<a href="#0005">164874.0005</a> and <a href="#0006">164874.0006</a>, respectively) in 2 unrelated females with the congenital variant of Rett syndrome. One of the girls had a phenotype that could be considered compatible with classic Rett syndrome, and the authors suggested that individuals with classic Rett syndrome should also be tested for mutations in the FOXG1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19564653" 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="#7" class="mim-tip-reference" title="Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W. B. <strong>The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.</strong> J. Med. Genet. 48: 396-406, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21441262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21441262</a>] [<a href="https://doi.org/10.1136/jmg.2010.087528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21441262">Kortum et al. (2011)</a> identified heterozygous deletions or mutations in the FOXG1 gene in 11 of 210 patients with severe mental retardation, microcephaly, and/or brain abnormalities. One known mutation (<a href="#0007">164874.0007</a>) was identified in 2 patients, and 9 novel mutations, including 2 large deletions, a balanced translocation and a deletion that both may have disrupted/displaced putative cis-regulatory elements of FOXG1, and 5 sequence changes, were identified. All mutations that could be evaluated were of de novo origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21441262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Mitter, D., Pringsheim, M., Kaulisch, M., Plumacher, K. S., Schroder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Buttel, H. M., Cohen, J. S., Conover, E., and 29 others. <strong>FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.</strong> Genet. Med. 20: 98-108, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28661489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28661489</a>] [<a href="https://doi.org/10.1038/gim.2017.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28661489">Mitter et al. (2018)</a> compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1, and identified 19 novel FOXG1 variants. Among the total group of 83 patients, there were 54 variants: 20 frameshift (37%), 17 missense (31%), 15 nonsense (28%), and 2 in-frame variants (4%). Frameshift and nonsense variants are distributed over all FOXG1 protein domains; missense variants cluster within the conserved forkhead domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28661489" 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="#11" class="mim-tip-reference" title="Mitter, D., Pringsheim, M., Kaulisch, M., Plumacher, K. S., Schroder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Buttel, H. M., Cohen, J. S., Conover, E., and 29 others. <strong>FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.</strong> Genet. Med. 20: 98-108, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28661489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28661489</a>] [<a href="https://doi.org/10.1038/gim.2017.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28661489">Mitter et al. (2018)</a> reviewed the genotype-phenotype correlation in 83 patients with mutations in FOXG1. They found a higher phenotypic variability than previously described. Genotype-phenotype association revealed significant differences in psychomotor development and neurologic features between FOXG1 genotype groups. More severe phenotypes were associated with truncating FOXG1 variants in the N-terminal domain and the forkhead domain (except conserved site 1) and milder phenotypes with missense variants in the forkhead conserved site 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28661489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Hanashima, C., Li, S. C., Shen, L., Lai, E., Fishell, G. <strong>Foxg1 suppresses early cortical cell fate.</strong> Science 303: 56-59, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704420</a>] [<a href="https://doi.org/10.1126/science.1090674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704420">Hanashima et al. (2004)</a> demonstrated that the generation of the earliest born neurons, the Cajal-Retzius cells, is suppressed by the telencephalic transcription factor Foxg1. In Foxg1-null mice, <a href="#5" class="mim-tip-reference" title="Hanashima, C., Li, S. C., Shen, L., Lai, E., Fishell, G. <strong>Foxg1 suppresses early cortical cell fate.</strong> Science 303: 56-59, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704420</a>] [<a href="https://doi.org/10.1126/science.1090674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704420">Hanashima et al. (2004)</a> observed an excess of Cajal-Retzius neuron production in the cortex. By conditionally inactivating Foxg1 in cortical progenitors that normally produce deep-layer cortical neurons, they demonstrated that Foxg1 is constitutively required to suppress Cajal-Retzius cell fate. Hence, <a href="#5" class="mim-tip-reference" title="Hanashima, C., Li, S. C., Shen, L., Lai, E., Fishell, G. <strong>Foxg1 suppresses early cortical cell fate.</strong> Science 303: 56-59, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14704420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14704420</a>] [<a href="https://doi.org/10.1126/science.1090674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14704420">Hanashima et al. (2004)</a> concluded that the competence to generate the earliest born neurons during late cortical development is actively suppressed but not lost. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14704420" 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 22-year-old girl with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#1" class="mim-tip-reference" title="Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. <strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong> Am. J. Hum. Genet. 83: 89-93, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18571142[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/10.1016/j.ajhg.2008.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571142">Ariani et al. (2008)</a> identified a heterozygous 765G-A transition in the FOXG1 gene, resulting in a trp255-to-ter (W255X) substitution and predicted to disrupt of the forkhead domain and impair DNA binding. The patient had a normal birth but developed microcephaly at age 3 months. She did not respond, was unable to lift her head, and was never able to sit unaided. She was always apraxic and showed peculiar jerky movements of the upper limbs and midline stereotypic activities, typical of classic Rett syndrome (RTT; <a href="/entry/312750">312750</a>). She never acquired spoken language and developed seizures at age 14 years. EEG showed a multifocal pattern with spikes and sharp waves and occasional paroxysmal activity. There was also corpus callosum hypoplasia, microcephaly, occasional abnormal breathing patterns, and bruxism. The mutation affected all 4 fetal brain isoforms of FOXG1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571142" 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 7-year-old girl with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#1" class="mim-tip-reference" title="Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. <strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong> Am. J. Hum. Genet. 83: 89-93, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18571142[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/10.1016/j.ajhg.2008.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571142">Ariani et al. (2008)</a> identified a heterozygous 1-bp deletion (969delC) in the FOXG1 gene, resulting in loss of the JARID1B (<a href="/entry/605393">605393</a>)-interacting domain and misfolding of the groucho-binding domain. The patient had a normal birth but developed microcephaly at age 3 months. She did not respond and was unable to lift her head. She was always apraxic and showed peculiar jerky movements of the upper limbs and midline stereotypic activities, typical of classic Rett syndrome (RTT; <a href="/entry/312750">312750</a>). She never acquired spoken language. EEG showed a multifocal pattern with spikes and sharp waves and occasional paroxysmal activity. There was also corpus callosum hypoplasia, microcephaly, occasional abnormal breathing patterns, and bruxism. The mutation affected all 4 fetal brain isoforms of FOXG1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571142" 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> rs267606826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606826;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/rs267606826?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=rs267606826" 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=rs267606826" 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=RCV000014883 OR RCV000760384 OR RCV002362583 OR RCV004558250" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014883, RCV000760384, RCV002362583, RCV004558250" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014883...</a>
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<p>In a 3-year-old Spanish girl with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#10" class="mim-tip-reference" title="Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A. <strong>Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.</strong> J. Med. Genet. 47: 49-53, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578037</a>] [<a href="https://doi.org/10.1136/jmg.2009.067884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578037">Mencarelli et al. (2010)</a> identified a de novo heterozygous 624C-G transversion in the FOXG1 gene, resulting in a tyr208-to-ter (Y208X) substitution. She had hypotonia at birth and subsequently showed progressive microcephaly and delayed psychomotor development. She never achieved sitting, walking, or speech, and showed stereotypic hand movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578037" 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">rs267606828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606828;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=rs267606828" 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=rs267606828" 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=RCV000014884 OR RCV004558251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014884, RCV004558251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014884...</a>
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<p>In an 8-year-old French girl with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#10" class="mim-tip-reference" title="Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A. <strong>Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.</strong> J. Med. Genet. 47: 49-53, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578037</a>] [<a href="https://doi.org/10.1136/jmg.2009.067884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578037">Mencarelli et al. (2010)</a> identified a de novo heterozygous 643T-C transition in the FOXG1 gene, resulting in a phe215-to-leu (F215L) substitution in a conserved residue. She had sleep disturbance and severe crying in the neonatal period, and showed psychomotor retardation at age 6 months. She had hypotonia, poor eye contact, manual stereotypies, microcephaly, and never achieved walking or speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578037" 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">rs267606827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606827;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=rs267606827" 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=rs267606827" 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=RCV000014885 OR RCV004558252" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014885, RCV004558252" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014885...</a>
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<p>In a 22-year-old woman with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#13" class="mim-tip-reference" title="Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. <strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong> J. Med. Genet. 47: 59-65, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19564653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19564653</a>] [<a href="https://doi.org/10.1136/jmg.2009.067355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19564653">Philippe et al. (2010)</a> identified a de novo heterozygous 924G-A transition in the FOXG1 gene, resulting in a trp308-to-ter (W308X) substitution. The resultant truncated protein lacks both the Groucho and JARID1C-binding domains. Deceleration of head growth was noted at age 2 months, followed by impaired interaction. She later showed sleep disruption associated with EEG abnormalities, and never acquired speech or purposeful hand movements. Brain MRI showed hypoplasia of the corpus callosum with decreased white matter volume. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19564653" 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> rs138747073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138747073;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/rs138747073?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=rs138747073" 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=rs138747073" 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=RCV000014886 OR RCV003441718 OR RCV004558253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014886, RCV003441718, RCV004558253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014886...</a>
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<p>In a 10-year-old girl with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#13" class="mim-tip-reference" title="Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. <strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong> J. Med. Genet. 47: 59-65, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19564653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19564653</a>] [<a href="https://doi.org/10.1136/jmg.2009.067355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19564653">Philippe et al. (2010)</a> identified a de novo heterozygous 1200C-G transversion in the FOXG1 gene, resulting in a tyr400-to-ter (Y400X) substitution. She was noted to have delayed development at 6 months of age, followed by postnatal deceleration of head growth at 9 months. At age 5 years, she had repetitive stereotypic hand movements, absence of speech, and inappropriate laughter. At age 9 years, she had poor eye contact, ataxia, and drooling. Brain MRI did not reveal any malformations. <a href="#13" class="mim-tip-reference" title="Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. <strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong> J. Med. Genet. 47: 59-65, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19564653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19564653</a>] [<a href="https://doi.org/10.1136/jmg.2009.067355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19564653">Philippe et al. (2010)</a> suggested that this patient's phenotype could be compatible with a diagnosis of classic Rett syndrome (RTT; <a href="/entry/312750">312750</a>), and noted that the W400X-mutant protein retains an intact Groucho-binding domain, which the authors suggested may have resulted in some residual activity and a somewhat less severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19564653" 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> rs398124204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124204;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/rs398124204?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=rs398124204" 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=rs398124204" 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=RCV000081281 OR RCV000170075 OR RCV001507058 OR RCV002274912 OR RCV002311627 OR RCV003915077" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000081281, RCV000170075, RCV001507058, RCV002274912, RCV002311627, RCV003915077" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000081281...</a>
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<p>In 2 unrelated patients with the congenital variant of Rett syndrome (<a href="/entry/613454">613454</a>), <a href="#7" class="mim-tip-reference" title="Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W. B. <strong>The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.</strong> J. Med. Genet. 48: 396-406, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21441262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21441262</a>] [<a href="https://doi.org/10.1136/jmg.2010.087528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21441262">Kortum et al. (2011)</a> identified a heterozygous de novo 1-bp duplication (460dupG), resulting in a duplication of guanine after 7 subsequent guanine nucleotides in the FOXG1 gene. The recurrence of this mutation suggested that this guanine stretch is prone to replication errors, thus representing a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21441262" 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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Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A.
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<strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong>
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Am. J. Hum. Genet. 83: 89-93, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18571142[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=18571142" 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.ajhg.2008.05.015" target="_blank">Full Text</a>]
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Bredenkamp, N., Seoighe, C., Illing, N.
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<strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong>
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Dev. Genes Evol. 217: 227-233, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17260156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17260156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17260156" 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/10.1007/s00427-006-0128-x" target="_blank">Full Text</a>]
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Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., and 10 others.
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<strong>Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.</strong>
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Europ. J. Hum. Genet. 19: 102-107, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20736978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20736978</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20736978[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=20736978" 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.2010.142" target="_blank">Full Text</a>]
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Cargnin, F., Kwon, J.-S., Katzman, S., Chen, B., Lee, J. W., Lee, S.-K.
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<strong>FOXG1 orchestrates neocortical organization and cortico-cortical connections.</strong>
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Neuron 100: 1083-1096, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30392794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30392794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30392794" 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.neuron.2018.10.016" target="_blank">Full Text</a>]
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<strong>Foxg1 suppresses early cortical cell fate.</strong>
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[<a href="https://doi.org/10.1126/science.1090674" target="_blank">Full Text</a>]
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<strong>The human homologue of the retroviral oncogene qin maps to chromosome 14q13.</strong>
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[<a href="https://doi.org/10.1073/pnas.91.9.3616" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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<strong>The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.</strong>
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[<a href="https://doi.org/10.1136/jmg.2010.087528" target="_blank">Full Text</a>]
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<a id="Li1995" class="mim-anchor"></a>
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<strong>The oncogene qin codes for a transcriptional repressor.</strong>
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<a id="Li1993" class="mim-anchor"></a>
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<div class="">
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<strong>The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head.</strong>
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Proc. Nat. Acad. Sci. 90: 4490-4494, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099441</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099441" 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/10.1073/pnas.90.10.4490" target="_blank">Full Text</a>]
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Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A.
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<strong>Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.</strong>
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J. Med. Genet. 47: 49-53, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.067884" target="_blank">Full Text</a>]
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<a id="Mitter2018" class="mim-anchor"></a>
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Mitter, D., Pringsheim, M., Kaulisch, M., Plumacher, K. S., Schroder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Buttel, H. M., Cohen, J. S., Conover, E., and 29 others.
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<strong>FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.</strong>
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Genet. Med. 20: 98-108, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28661489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28661489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28661489" 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/gim.2017.75" target="_blank">Full Text</a>]
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Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U.
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<strong>Human brain factor 1, a new member of the fork head gene family.</strong>
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Genomics 21: 551-557, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1313" target="_blank">Full Text</a>]
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Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P.
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<strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong>
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J. Med. Genet. 47: 59-65, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19564653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19564653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19564653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.067355" target="_blank">Full Text</a>]
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Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.-H., Kalscheuer, V. M.
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<strong>Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations, and microcephaly.</strong>
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Hum. Genet. 117: 536-544, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16133170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16133170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16133170" 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/10.1007/s00439-005-1310-3" target="_blank">Full Text</a>]
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Tohyama, J., Yamamoto, T., Hosoki, K., Nagasaki, K., Akasaka, N., Ohashi, T., Kobayashi, Y., Saitoh, S.
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<strong>West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.</strong>
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Am. J. Med. Genet. 155A: 2584-2588, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910242</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910242" 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.34224" target="_blank">Full Text</a>]
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Wiese, S., Murphy, D. B., Schlung, A., Burfeind, P., Schmundt, D., Schnulle, V., Mattei, M.-G., Thies, U.
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<strong>The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.</strong>
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Biochim. Biophys. Acta 1262: 105-112, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7599184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7599184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7599184" 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/10.1016/0167-4781(95)00059-p" target="_blank">Full Text</a>]
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Bao Lige - updated : 01/25/2019
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Ada Hamosh - updated : 07/10/2018<br>Cassandra L. Kniffin - updated : 9/5/2012<br>Cassandra L. Kniffin - updated : 7/8/2011<br>Cassandra L. Kniffin - updated : 6/17/2010<br>Cassandra L. Kniffin - updated : 8/11/2008<br>Patricia A. Hartz - updated : 6/25/2007<br>Ada Hamosh - updated : 1/8/2004
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Victor A. McKusick : 5/6/1994
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carol : 08/27/2018<br>alopez : 07/10/2018<br>carol : 09/06/2012<br>ckniffin : 9/5/2012<br>wwang : 7/18/2011<br>ckniffin : 7/8/2011<br>wwang : 6/25/2010<br>ckniffin : 6/17/2010<br>wwang : 8/20/2008<br>ckniffin : 8/11/2008<br>mgross : 7/1/2008<br>mgross : 6/25/2007<br>mgross : 6/25/2007<br>terry : 6/25/2007<br>tkritzer : 1/12/2004<br>terry : 1/8/2004<br>carol : 1/4/2001<br>dkim : 7/21/1998<br>terry : 5/22/1998<br>carol : 2/2/1998<br>alopez : 1/28/1998<br>mark : 1/10/1998<br>mark : 3/12/1997<br>mark : 2/26/1996<br>mark : 1/23/1996<br>mark : 1/21/1996<br>joanna : 1/17/1996<br>joanna : 1/16/1996<br>mark : 11/6/1995<br>jason : 7/1/1994<br>carol : 5/6/1994
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<div>
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<h3>
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<span class="mim-font">
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FORKHEAD BOX G1; FOXG1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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FORKHEAD BOX G1B; FOXG1B<br />
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FORKHEAD-LIKE 1; FKHL1<br />
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ONCOGENE QIN<br />
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BRAIN FACTOR 1; BF1
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FOXG1</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> 702450004;
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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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<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: 14q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:28,766,787-28,770,277 </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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14q12
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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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Rett syndrome, congenital variant
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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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613454
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</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>The FOXG1 gene encodes a developmental transcription factor with repressor activities (Murphy et al., 1994; Li et al., 1995). </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>The QIN gene was identified by Li and Vogt (1993) as the cell-derived insert in avian sarcoma virus-31 and is the putative oncogene of that virus. The QIN product belongs to a large family of transcription factors that includes the product of the homeotic gene forkhead (fkh) of Drosophila and hepatocyte nuclear factor-3 (HNF3; see HNF3A, 602294) and brain factor-1 (BF1) of mammals. Members of the family, referred to as the fkh/HNF3 family, share a unique DNA-binding domain, the FKH box. </p><p>By analyzing cDNA clones that cross-hybridized with the FKH domain of the rat Hnf3a, Murphy et al. (1994) isolated 10 cDNAs from human fetal brain and human testis cDNA libraries. One of these cDNAs, which they called HFK1 (for human forkhead-1), encodes a putative 476-amino acid protein that shares 87.5% identity with rat Bf1 at the amino acid level. HFK1 was found to be highly conserved among mammalian species and possibly among birds. Northern blot analysis detected a 3.2-kb transcript in human and mouse fetal brain and adult mouse brain. In situ hybridization with sections of mouse embryo and human fetal brain demonstrated that HFK1 expression was restricted to the neuronal cells in the telencephalon, with strong expression in the developing dentate gyrus and hippocampus. Murphy et al. (1994) obtained 2 other cDNAs, which they called HFK2 (FOXG1A) and HFK3 (FOXG1C), that they considered to be closely related but distinct from HFK1. Wiese et al. (1995) reported that FOXG1A, or BF2, was a duplicated copy of FOXG1B. However, by genomic sequence analysis, Bredenkamp et al. (2007) determined that there is only a single FOXG1 gene, which corresponds to the FOXG1B sequence. </p><p>Shoichet et al. (2005) identified 4 additional exons 3-prime to exon 1 of FOXG1. RT-PCR analysis isolated 4 splice variants that lack the last 113 nucleotides of FOXG1 exon 1 and have C-terminal ends defined by the additional exonic sequences. Northern blot analysis of human fetal brain detected transcripts of 8.5, 7.0, and 6.0 kb that were not present in adult brain. </p><p>Bredenkamp et al. (2007) found that FOXG1 was highly conserved among 6 mammalian and 3 reptilian species examined, with highest conservation in the DNA-binding and C-terminal domains. The N-terminal domain of mammalian FOXG1 contains an extended proline- and glutamine-rich region specific to mammals. Bredenkamp et al. (2007) also identified conserved miR9 (MIRN9; see 611186) and miR33 (see MIRN33A; 612156) recognition sites in the FOXG1 3-prime UTR. </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>Wiese et al. (1995) found that the human BF1 gene contains a 500-bp intron situated between exons encoding the DNA-binding domain II and the forkhead domain. Shoichet et al. (2005) determined that the FOXG1 gene contains 5 exons. By genomic sequence analysis, Bredenkamp et al. (2007) determined that the FOXG1 gene contains no introns. </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 analysis of rodent/human somatic cell hybrids and by fluorescence in situ hybridization, Kastury et al. (1994) mapped the human QIN gene to chromosome 14q13. Using chromosomal in situ hybridization, Murphy et al. (1994) localized the HFK1 gene to chromosome 14q12. By isotopic in situ hybridization, Wiese et al. (1995) demonstrated that BF1 and the closely related BF2 gene map to chromosome 14q11-q13. However, by genomic sequence analysis, Bredenkamp et al. (2007) found no evidence of multiple FOXG1 genes in the human genome and showed that the 3 reported FOXG1 sequences map to an identical interval of chromosome 14. </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>Li et al. (1995) found that both the cellular QIN protein and viral QIN protein acted as transcriptional repressors. The major transcriptional repression domain mapped to amino acids 252 to 395 of viral QIN. </p><p>In mouse postnatal cortex, Ariani et al. (2008) found overlapping expression of Foxg1 and Mecp2 (300005) in differentiating cortical compartments and neuronal subnuclear localization. </p><p>Using conditional inactivation in mice, Cargnin et al. (2018) found that Foxg1 action in cortical neurons was required for formation of cortical laminar structure, corpus callosum, and hippocampus, as well as in generation of cortical layers. Full gene dosage of Foxg1 in cortical neurons was needed to establish cortico-cortical projections, and loss of Foxg1 action in neurons led to deficits in midline glia that played an important role in establishing callosal projections. Examination of a subset of late-born neurons in cortices of conditional knockout mice revealed that Foxg1 controlled the timely integration of cortical pyramidal neurons to the upper layers and the navigation of callosal axons in cell-autonomous and Foxg1 dosage-sensitive manners. Chromatin immunoprecipitation-sequencing analysis revealed that Foxg1 and Rp58 (613617) formed a complex in cortical pyramidal neurons and controlled transcription of common target genes during cortex development. The Foxg1-Rp58 complex bound directly to and repressed a set of genes that controlled neuronal migration and axonal projection, including Robo1 (602430), Slit3 (603745), and reelin (RELN; 600514), thereby orchestrating the timely integration of cortical neurons into the correct laminar position and subsequent callosal axon navigation. </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>Cytogenetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Shoichet et al. (2005) reported a girl with several mental retardation associated with complete agenesis of the corpus callosum and microcephaly associated with a balanced de novo translocation, t(2;14)(p22;q12) and a neighboring 720-kb inversion on chromosome 14q12. The cytogenetic changes disrupted the C terminus of splice variants of the FOXG1 gene. The patient's disorder was first noted at age 2 weeks, when she showed severe muscle rigidity. At 6 months, she was unable to lift her head and microcephaly was noted. At age 7 years, she was unable to sit or stand without assistance, had no language development, and had seizures and tetraplegia. </p><p>In 7 unrelated patients with mental retardation who were referred for genomewide array CGH analysis, Brunetti-Pierri et al. (2011) identified 7 different but overlapping duplications of chromosome 14q12. The duplications ranged in size from 3 to 14 Mb and the minimal common duplicated region included 3 genes: FOXG1, C14ORF32, and PRKD1 (605435). All patients had developmental delay, mental retardation, and absent or delayed speech, and 4 had infantile spasms or other seizures, including 2 with hypsarrhythmia (see 613454). Otherwise, the features were highly variable, and although 4 had dysmorphic features, there was no recognizable pattern. Brunetti-Pierri et al. (2011) concluded that increased dosage of FOXG1 was the best candidate to explain the neurodevelopmental phenotypes in these patients. </p><p>Tohyama et al. (2011) reported a Japanese girl who developed infantile seizures and spasms at age 4 months with progression to hypsarrhythmia. Treatment with adrenocorticotropic hormone resulted in seizure control by age 6 months, but she had mild psychomotor delay and poor speech at age 6 years. Chromosome analysis revealed mosaicism for maternal uniparental disomy of chromosome 14q. Microarray-based CGH delineated an 11.2-Mb duplication of 14q11.2-q12, which contained 124 genes, including FOXG1. Tohyama et al. (2011) concluded that increased dosage of the FOXG1 gene was responsible for the phenotype. </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">
|
|
<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">
|
|
<p>In 2 unrelated girls with the congenital variant of Rett syndrome (613454), Ariani et al. (2008) identified 2 different heterozygous truncating mutations in the FOXG1 gene (164874.0001 and 164874.0002, respectively). Both girls had infantile onset of microcephaly, mental retardation, and peculiar jerky movements similar to that observed in classic Rett syndrome (RTT; 312750). </p><p>Mencarelli et al. (2010) identified 4 different heterozygous mutations in the FOXG1 gene (see, e.g., 164874.0003-164874.0004) in 4 unrelated girls with the congenital variant of Rett syndrome. All had severe mental retardation with lack of speech and motor development and stereotypic movements. </p><p>Philippe et al. (2010) identified 2 different de novo heterozygous mutations in the FOXG1 gene (164874.0005 and 164874.0006, respectively) in 2 unrelated females with the congenital variant of Rett syndrome. One of the girls had a phenotype that could be considered compatible with classic Rett syndrome, and the authors suggested that individuals with classic Rett syndrome should also be tested for mutations in the FOXG1 gene. </p><p>Kortum et al. (2011) identified heterozygous deletions or mutations in the FOXG1 gene in 11 of 210 patients with severe mental retardation, microcephaly, and/or brain abnormalities. One known mutation (164874.0007) was identified in 2 patients, and 9 novel mutations, including 2 large deletions, a balanced translocation and a deletion that both may have disrupted/displaced putative cis-regulatory elements of FOXG1, and 5 sequence changes, were identified. All mutations that could be evaluated were of de novo origin. </p><p>Mitter et al. (2018) compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1, and identified 19 novel FOXG1 variants. Among the total group of 83 patients, there were 54 variants: 20 frameshift (37%), 17 missense (31%), 15 nonsense (28%), and 2 in-frame variants (4%). Frameshift and nonsense variants are distributed over all FOXG1 protein domains; missense variants cluster within the conserved forkhead domain. </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">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Mitter et al. (2018) reviewed the genotype-phenotype correlation in 83 patients with mutations in FOXG1. They found a higher phenotypic variability than previously described. Genotype-phenotype association revealed significant differences in psychomotor development and neurologic features between FOXG1 genotype groups. More severe phenotypes were associated with truncating FOXG1 variants in the N-terminal domain and the forkhead domain (except conserved site 1) and milder phenotypes with missense variants in the forkhead conserved site 1. </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>Hanashima et al. (2004) demonstrated that the generation of the earliest born neurons, the Cajal-Retzius cells, is suppressed by the telencephalic transcription factor Foxg1. In Foxg1-null mice, Hanashima et al. (2004) observed an excess of Cajal-Retzius neuron production in the cortex. By conditionally inactivating Foxg1 in cortical progenitors that normally produce deep-layer cortical neurons, they demonstrated that Foxg1 is constitutively required to suppress Cajal-Retzius cell fate. Hence, Hanashima et al. (2004) concluded that the competence to generate the earliest born neurons during late cortical development is actively suppressed but not lost. </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>7 Selected Examples):</strong>
|
|
</span>
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</h4>
|
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<div>
|
|
<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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, TRP255TER
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<br />
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SNP: rs121913678,
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ClinVar: RCV000014881, RCV004558249
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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 22-year-old girl with the congenital variant of Rett syndrome (613454), Ariani et al. (2008) identified a heterozygous 765G-A transition in the FOXG1 gene, resulting in a trp255-to-ter (W255X) substitution and predicted to disrupt of the forkhead domain and impair DNA binding. The patient had a normal birth but developed microcephaly at age 3 months. She did not respond, was unable to lift her head, and was never able to sit unaided. She was always apraxic and showed peculiar jerky movements of the upper limbs and midline stereotypic activities, typical of classic Rett syndrome (RTT; 312750). She never acquired spoken language and developed seizures at age 14 years. EEG showed a multifocal pattern with spikes and sharp waves and occasional paroxysmal activity. There was also corpus callosum hypoplasia, microcephaly, occasional abnormal breathing patterns, and bruxism. The mutation affected all 4 fetal brain isoforms of FOXG1. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, 1-BP DEL, 969C
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<br />
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SNP: rs786205011,
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ClinVar: RCV000170085, RCV004558434
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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 7-year-old girl with the congenital variant of Rett syndrome (613454), Ariani et al. (2008) identified a heterozygous 1-bp deletion (969delC) in the FOXG1 gene, resulting in loss of the JARID1B (605393)-interacting domain and misfolding of the groucho-binding domain. The patient had a normal birth but developed microcephaly at age 3 months. She did not respond and was unable to lift her head. She was always apraxic and showed peculiar jerky movements of the upper limbs and midline stereotypic activities, typical of classic Rett syndrome (RTT; 312750). She never acquired spoken language. EEG showed a multifocal pattern with spikes and sharp waves and occasional paroxysmal activity. There was also corpus callosum hypoplasia, microcephaly, occasional abnormal breathing patterns, and bruxism. The mutation affected all 4 fetal brain isoforms of FOXG1. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, TYR208TER
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<br />
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SNP: rs267606826,
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gnomAD: rs267606826,
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ClinVar: RCV000014883, RCV000760384, RCV002362583, RCV004558250
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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 3-year-old Spanish girl with the congenital variant of Rett syndrome (613454), Mencarelli et al. (2010) identified a de novo heterozygous 624C-G transversion in the FOXG1 gene, resulting in a tyr208-to-ter (Y208X) substitution. She had hypotonia at birth and subsequently showed progressive microcephaly and delayed psychomotor development. She never achieved sitting, walking, or speech, and showed stereotypic hand movements. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, PHE215LEU
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<br />
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SNP: rs267606828,
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ClinVar: RCV000014884, RCV004558251
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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 an 8-year-old French girl with the congenital variant of Rett syndrome (613454), Mencarelli et al. (2010) identified a de novo heterozygous 643T-C transition in the FOXG1 gene, resulting in a phe215-to-leu (F215L) substitution in a conserved residue. She had sleep disturbance and severe crying in the neonatal period, and showed psychomotor retardation at age 6 months. She had hypotonia, poor eye contact, manual stereotypies, microcephaly, and never achieved walking or speech. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, TRP308TER
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<br />
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SNP: rs267606827,
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ClinVar: RCV000014885, RCV004558252
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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 22-year-old woman with the congenital variant of Rett syndrome (613454), Philippe et al. (2010) identified a de novo heterozygous 924G-A transition in the FOXG1 gene, resulting in a trp308-to-ter (W308X) substitution. The resultant truncated protein lacks both the Groucho and JARID1C-binding domains. Deceleration of head growth was noted at age 2 months, followed by impaired interaction. She later showed sleep disruption associated with EEG abnormalities, and never acquired speech or purposeful hand movements. Brain MRI showed hypoplasia of the corpus callosum with decreased white matter volume. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, TYR400TER
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<br />
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SNP: rs138747073,
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gnomAD: rs138747073,
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ClinVar: RCV000014886, RCV003441718, RCV004558253
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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 10-year-old girl with the congenital variant of Rett syndrome (613454), Philippe et al. (2010) identified a de novo heterozygous 1200C-G transversion in the FOXG1 gene, resulting in a tyr400-to-ter (Y400X) substitution. She was noted to have delayed development at 6 months of age, followed by postnatal deceleration of head growth at 9 months. At age 5 years, she had repetitive stereotypic hand movements, absence of speech, and inappropriate laughter. At age 9 years, she had poor eye contact, ataxia, and drooling. Brain MRI did not reveal any malformations. Philippe et al. (2010) suggested that this patient's phenotype could be compatible with a diagnosis of classic Rett syndrome (RTT; 312750), and noted that the W400X-mutant protein retains an intact Groucho-binding domain, which the authors suggested may have resulted in some residual activity and a somewhat less severe phenotype. </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 RETT SYNDROME, CONGENITAL VARIANT</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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FOXG1, 1-BP DUP, 460G
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<br />
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SNP: rs398124204,
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gnomAD: rs398124204,
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ClinVar: RCV000081281, RCV000170075, RCV001507058, RCV002274912, RCV002311627, RCV003915077
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated patients with the congenital variant of Rett syndrome (613454), Kortum et al. (2011) identified a heterozygous de novo 1-bp duplication (460dupG), resulting in a duplication of guanine after 7 subsequent guanine nucleotides in the FOXG1 gene. The recurrence of this mutation suggested that this guanine stretch is prone to replication errors, thus representing a mutation hotspot. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A.
|
|
<strong>FOXG1 is responsible for the congenital variant of Rett syndrome.</strong>
|
|
Am. J. Hum. Genet. 83: 89-93, 2008.
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[PubMed: 18571142]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.05.015]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bredenkamp, N., Seoighe, C., Illing, N.
|
|
<strong>Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.</strong>
|
|
Dev. Genes Evol. 217: 227-233, 2007.
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|
|
[PubMed: 17260156]
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[Full Text: https://doi.org/10.1007/s00427-006-0128-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., and 10 others.
|
|
<strong>Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.</strong>
|
|
Europ. J. Hum. Genet. 19: 102-107, 2011.
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[PubMed: 20736978]
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[Full Text: https://doi.org/10.1038/ejhg.2010.142]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cargnin, F., Kwon, J.-S., Katzman, S., Chen, B., Lee, J. W., Lee, S.-K.
|
|
<strong>FOXG1 orchestrates neocortical organization and cortico-cortical connections.</strong>
|
|
Neuron 100: 1083-1096, 2018.
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|
|
[PubMed: 30392794]
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[Full Text: https://doi.org/10.1016/j.neuron.2018.10.016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hanashima, C., Li, S. C., Shen, L., Lai, E., Fishell, G.
|
|
<strong>Foxg1 suppresses early cortical cell fate.</strong>
|
|
Science 303: 56-59, 2004.
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|
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[PubMed: 14704420]
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[Full Text: https://doi.org/10.1126/science.1090674]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kastury, K., Li, J., Druck, T., Su, H., Vogt, P. K., Croce, C. M., Huebner, K.
|
|
<strong>The human homologue of the retroviral oncogene qin maps to chromosome 14q13.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 3616-3618, 1994.
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[PubMed: 8170957]
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[Full Text: https://doi.org/10.1073/pnas.91.9.3616]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W. B.
|
|
<strong>The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.</strong>
|
|
J. Med. Genet. 48: 396-406, 2011.
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|
[PubMed: 21441262]
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[Full Text: https://doi.org/10.1136/jmg.2010.087528]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Li, J., Chang, H. W., Lai, E., Parker, E. J., Vogt, P. K.
|
|
<strong>The oncogene qin codes for a transcriptional repressor.</strong>
|
|
Cancer Res. 55: 5540-5544, 1995.
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|
|
[PubMed: 7585630]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Li, J., Vogt, P. K.
|
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<strong>The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 4490-4494, 1993.
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[PubMed: 8099441]
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[Full Text: https://doi.org/10.1073/pnas.90.10.4490]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A.
|
|
<strong>Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.</strong>
|
|
J. Med. Genet. 47: 49-53, 2010.
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|
|
[PubMed: 19578037]
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[Full Text: https://doi.org/10.1136/jmg.2009.067884]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mitter, D., Pringsheim, M., Kaulisch, M., Plumacher, K. S., Schroder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Buttel, H. M., Cohen, J. S., Conover, E., and 29 others.
|
|
<strong>FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.</strong>
|
|
Genet. Med. 20: 98-108, 2018.
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[PubMed: 28661489]
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[Full Text: https://doi.org/10.1038/gim.2017.75]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Murphy, D. B., Wiese, S., Burfeind, P., Schmundt, D., Mattei, M.-G., Schulz-Schaeffer, W., Thies, U.
|
|
<strong>Human brain factor 1, a new member of the fork head gene family.</strong>
|
|
Genomics 21: 551-557, 1994.
|
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|
|
[PubMed: 7959731]
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[Full Text: https://doi.org/10.1006/geno.1994.1313]
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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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Philippe, C., Amsallem, D., Francannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P.
|
|
<strong>Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.</strong>
|
|
J. Med. Genet. 47: 59-65, 2010.
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|
|
[PubMed: 19564653]
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[Full Text: https://doi.org/10.1136/jmg.2009.067355]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.-H., Kalscheuer, V. M.
|
|
<strong>Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations, and microcephaly.</strong>
|
|
Hum. Genet. 117: 536-544, 2005.
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|
|
[PubMed: 16133170]
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[Full Text: https://doi.org/10.1007/s00439-005-1310-3]
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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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Tohyama, J., Yamamoto, T., Hosoki, K., Nagasaki, K., Akasaka, N., Ohashi, T., Kobayashi, Y., Saitoh, S.
|
|
<strong>West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.</strong>
|
|
Am. J. Med. Genet. 155A: 2584-2588, 2011.
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[PubMed: 21910242]
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[Full Text: https://doi.org/10.1002/ajmg.a.34224]
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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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Wiese, S., Murphy, D. B., Schlung, A., Burfeind, P., Schmundt, D., Schnulle, V., Mattei, M.-G., Thies, U.
|
|
<strong>The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.</strong>
|
|
Biochim. Biophys. Acta 1262: 105-112, 1995.
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[PubMed: 7599184]
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[Full Text: https://doi.org/10.1016/0167-4781(95)00059-p]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 01/25/2019<br>Ada Hamosh - updated : 07/10/2018<br>Cassandra L. Kniffin - updated : 9/5/2012<br>Cassandra L. Kniffin - updated : 7/8/2011<br>Cassandra L. Kniffin - updated : 6/17/2010<br>Cassandra L. Kniffin - updated : 8/11/2008<br>Patricia A. Hartz - updated : 6/25/2007<br>Ada Hamosh - updated : 1/8/2004
|
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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 : 5/6/1994
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</span>
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</div>
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</div>
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</div>
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<div>
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<div 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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