2114 lines
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Entry
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- #155500 - MACRODACTYLY
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- OMIM
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<p>
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<span class="h4">#155500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/155500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=MACRODACTYLY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK153722/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=155500[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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<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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<a id="title" class="mim-anchor"></a>
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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> 48449000<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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155500
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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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MACRODACTYLY
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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MEGALODACTYLY
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</h4>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/876?start=-3&limit=10&highlight=876">
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3q26.32
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</a>
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<td>
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<span class="mim-font">
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Macrodactyly, somatic
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<td>
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<span class="mim-font">
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<a href="/entry/155500"> 155500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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PIK3CA
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<span class="mim-font">
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<a href="/entry/171834"> 171834 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/155500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/155500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/155500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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- One or 2 extraordinarily enlarged fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746635</a>]</span><br />
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- Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, <a href="/entry/171834#0001">171834.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that macrodactyly can be caused by somatic mutation in the PIK3CA (<a href="/entry/171834">171834</a>) gene on chromosome 3q26.</p>
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<p>Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by <a href="#4" class="mim-tip-reference" title="Rios, J. J., Paria, N., Burns, D. K., Israel, B. A., Cornelia, R., Wise, C. A., Ezaki, M. <strong>Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.</strong> Hum. Molec. Genet. 22: 444-451, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100325</a>] [<a href="https://doi.org/10.1093/hmg/dds440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23100325">Rios et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23100325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p>One or 2 fingers are grotesquely enlarged. <a href="#1" class="mim-tip-reference" title="Barsky, A. J. <strong>Macrodactyly.</strong> J. Bone Joint Surg. Am. 49: 1255-1266, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4293291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4293291</a>]" pmid="4293291">Barsky (1967)</a> and others found no report of familial occurrence. <a href="#2" class="mim-tip-reference" title="Lacombe, D., Battin, J. <strong>Isolated macrodactyly and Proteus syndrome. (Letter)</strong> Clin. Dysmorph. 5: 255-257, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818455</a>]" pmid="8818455">Lacombe and Battin (1996)</a> described 2 children diagnosed at birth as having isolated macrodactyly. Follow-up examination showed development of hemihypertrophy and other findings suggesting Proteus syndrome (<a href="/entry/176920">176920</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4293291+8818455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In 6 patients with macrodactyly, <a href="#4" class="mim-tip-reference" title="Rios, J. J., Paria, N., Burns, D. K., Israel, B. A., Cornelia, R., Wise, C. A., Ezaki, M. <strong>Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.</strong> Hum. Molec. Genet. 22: 444-451, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100325</a>] [<a href="https://doi.org/10.1093/hmg/dds440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23100325">Rios et al. (2013)</a> identified 4 different somatic mutations (e.g., <a href="/entry/171834#0022">171834.0022</a>) in the PIK3CA gene in affected tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23100325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<a href="#Rechnagel1967" class="mim-tip-reference" title="Rechnagel, K. <strong>Megalodactylism. Report of 7 cases.</strong> Acta Orthop. Scand. 38: 57-66, 1967.">Rechnagel (1967)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Barsky1967" class="mim-anchor"></a>
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<p class="mim-text-font">
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Barsky, A. J.
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<strong>Macrodactyly.</strong>
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J. Bone Joint Surg. Am. 49: 1255-1266, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4293291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4293291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4293291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Lacombe1996" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lacombe, D., Battin, J.
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<strong>Isolated macrodactyly and Proteus syndrome. (Letter)</strong>
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Clin. Dysmorph. 5: 255-257, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Rechnagel1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rechnagel, K.
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<strong>Megalodactylism. Report of 7 cases.</strong>
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Acta Orthop. Scand. 38: 57-66, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6035453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6035453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6035453" 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/10.3109/17453676708989619" target="_blank">Full Text</a>]
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<a id="Rios2013" class="mim-anchor"></a>
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Rios, J. J., Paria, N., Burns, D. K., Israel, B. A., Cornelia, R., Wise, C. A., Ezaki, M.
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<strong>Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.</strong>
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Hum. Molec. Genet. 22: 444-451, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23100325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23100325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23100325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds440" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 10/09/2018
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Iosif W. Lurie - updated : 8/12/1996
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Victor A. McKusick : 6/2/1986
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alopez : 10/10/2018
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alopez : 10/09/2018<br>terry : 01/13/2011<br>carol : 8/12/1996<br>mimadm : 11/6/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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<strong>#</strong> 155500
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MACRODACTYLY
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<span class="mim-font">
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MEGALODACTYLY
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<strong>SNOMEDCT:</strong> 48449000;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<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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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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3q26.32
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</td>
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<td>
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<span class="mim-font">
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Macrodactyly, somatic
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<td>
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<span class="mim-font">
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155500
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<span class="mim-font">
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3
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<span class="mim-font">
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PIK3CA
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<span class="mim-font">
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171834
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</tr>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that macrodactyly can be caused by somatic mutation in the PIK3CA (171834) gene on chromosome 3q26.</p>
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</span>
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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>Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by Rios et al., 2013). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>One or 2 fingers are grotesquely enlarged. Barsky (1967) and others found no report of familial occurrence. Lacombe and Battin (1996) described 2 children diagnosed at birth as having isolated macrodactyly. Follow-up examination showed development of hemihypertrophy and other findings suggesting Proteus syndrome (176920). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 6 patients with macrodactyly, Rios et al. (2013) identified 4 different somatic mutations (e.g., 171834.0022) in the PIK3CA gene in affected tissue. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Rechnagel (1967)
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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>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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Barsky, A. J.
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<strong>Macrodactyly.</strong>
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J. Bone Joint Surg. Am. 49: 1255-1266, 1967.
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[PubMed: 4293291]
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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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Lacombe, D., Battin, J.
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<strong>Isolated macrodactyly and Proteus syndrome. (Letter)</strong>
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Clin. Dysmorph. 5: 255-257, 1996.
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[PubMed: 8818455]
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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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Rechnagel, K.
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<strong>Megalodactylism. Report of 7 cases.</strong>
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Acta Orthop. Scand. 38: 57-66, 1967.
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[PubMed: 6035453]
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[Full Text: https://doi.org/10.3109/17453676708989619]
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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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Rios, J. J., Paria, N., Burns, D. K., Israel, B. A., Cornelia, R., Wise, C. A., Ezaki, M.
|
|
<strong>Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.</strong>
|
|
Hum. Molec. Genet. 22: 444-451, 2013.
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[PubMed: 23100325]
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[Full Text: https://doi.org/10.1093/hmg/dds440]
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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 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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Ada Hamosh - updated : 10/09/2018<br>Iosif W. Lurie - updated : 8/12/1996
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</span>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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<br />
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Edit History:
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<span class="mim-text-font">
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alopez : 10/10/2018<br>alopez : 10/09/2018<br>terry : 01/13/2011<br>carol : 8/12/1996<br>mimadm : 11/6/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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