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Entry
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- #620470 - CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY; CSMH
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- OMIM
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<p>
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<span class="h4">#620470</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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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/620470"><strong>Clinical Synopsis</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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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</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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</a>
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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><a href="https://clinicaltrials.gov/search?cond=(CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH WITHOUT HEMIHYPERTROPHY) OR (ACTB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></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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<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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<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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620470
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</span>
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</span>
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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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CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY; CSMH
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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="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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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/46?start=-3&limit=10&highlight=46">
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7p22.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620470"> 620470 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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ACTB
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/102630"> 102630 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/620470" 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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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/620470" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/620470" 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>
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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> SKIN, NAILS, & HAIR </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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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Increased thickness and pigmentation of an area of skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829766</a>]</span><br /> -
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Hair on affected skin (may grow during adolescence) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829767</a>]</span><br />
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<span class="h5 mim-font">
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<em> Skin Histology </em>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Smooth muscle hamartoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829769</a>]</span><br /> -
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Smooth muscle hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2265909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2265909</a>, <a href="https://bioportal.bioontology.org/search?q=C5781857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5781857</a>]</span><br /> -
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Increased numbers of smooth muscle fiber bundles in dermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883518</a>]</span><br />
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<strong> MUSCLE, SOFT TISSUES </strong>
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- Hemihypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205838004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001528</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in infancy or childhood<br /> -
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Skin lesion may become more apparent in adolescence<br /> -
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Phenotypic differences attributed to timing and/or lineage of postzygotic mutation<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by somatic mutation in the beta-actin gene (ACTB, <a href="/entry/102630#0011">102630.0011</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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 congenital smooth muscle hamartoma (CSMH) with or without hemihypertrophy is caused by postzygotic mutation, resulting in somatic mosaicism, in the ACTB gene (<a href="/entry/102630">102630</a>) on chromosome 7p22.</p><p>A related disorder, Becker nevus syndrome (BNS; <a href="/entry/604919">604919</a>), shares clinical and histologic features and is also caused by somatic mutation in the ACTB gene.</p>
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<p>Congenital smooth muscle hamartoma (CSMH) is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy (<a href="#1" class="mim-tip-reference" title="Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A. <strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong> J. Cutan. Path. 47: 681-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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/10.1111/cup.13683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32170967">Atzmony et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32170967" 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><a href="#1" class="mim-tip-reference" title="Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A. <strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong> J. Cutan. Path. 47: 681-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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/10.1111/cup.13683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32170967">Atzmony et al. (2020)</a> reported a 2-year-old boy (MOS1) with hemihypertrichosis and hemihypertrophy and postzygotic mutation in the ACTB gene. Examination revealed right-sided hypertrichosis of the upper back and posterior right arm, as well as hemihypertrophy of the right upper extremity. Biopsy of the right upper arm showed increased numbers of small bundles of smooth muscle fibers in the dermis, some associated with hair follicles and some in between hair follicles. The authors diagnosed the boy with giant segmental congenital smooth muscle hamartoma (CSMH) and hemihypertrophy, noting that the large area of CSMH involvement along with the hemihypertrophy suggested a multilineage mesodermal mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32170967" 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>Inheritance</strong>
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<p>The identification by <a href="#1" class="mim-tip-reference" title="Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A. <strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong> J. Cutan. Path. 47: 681-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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/10.1111/cup.13683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32170967">Atzmony et al. (2020)</a> of mutation in the ACTB gene in fibroblasts from affected skin from patients with CSMH, but not in keratinocytes from the same lesion or in patient saliva, was consistent with somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32170967" 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>Population Genetics</strong>
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<p>CSMH occurs in approximately 1 in 2,600 live births (summary by <a href="#1" class="mim-tip-reference" title="Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A. <strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong> J. Cutan. Path. 47: 681-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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/10.1111/cup.13683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32170967">Atzmony et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32170967" 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 fibroblasts cultured from affected skin of a 2-year-old boy (MOS1) with segmental congenital smooth muscle hamartoma and hemihypertrophy, <a href="#1" class="mim-tip-reference" title="Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A. <strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong> J. Cutan. Path. 47: 681-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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/10.1111/cup.13683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32170967">Atzmony et al. (2020)</a> sequenced the ACTB gene and identified a previously reported postzygotic missense mutation, R147S, which was not found in keratinocytes from the same lesion or in patient saliva. The authors analyzed another 12 CSMH samples and identified somatic hotspot mutations in the ACTB gene in 8 samples, including the previously reported R147S mutation and recurrent mutations at residue G146: G146A (<a href="/entry/102630#0013">102630.0013</a>), G146V (<a href="/entry/102630#0014">102630.0014</a>), G146D (<a href="/entry/102630#0015">102630.0015</a>), and G146S (<a href="/entry/102630#0016">102630.0016</a>). The authors suggested that dissimilarities between Becker nevi and CSMHs might be determined by intrauterine environmental factors, mutation lineage or timing, and/or modifier genes, and that hypertrophy versus hypoplasia could be explained by different cell lineages being involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32170967" 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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Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A.
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<strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong>
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J. Cutan. Path. 47: 681-685, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32170967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32170967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32170967[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=32170967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cup.13683" target="_blank">Full Text</a>]
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Anne M. Stumpf : 08/10/2023
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alopez : 10/06/2023
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alopez : 08/10/2023
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<strong>#</strong> 620470
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<h3>
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CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY; CSMH
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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7p22.1
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<span class="mim-font">
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Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic
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<span class="mim-font">
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620470
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<span class="mim-font">
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<span class="mim-font">
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3
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ACTB
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<span class="mim-font">
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102630
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that congenital smooth muscle hamartoma (CSMH) with or without hemihypertrophy is caused by postzygotic mutation, resulting in somatic mosaicism, in the ACTB gene (102630) on chromosome 7p22.</p><p>A related disorder, Becker nevus syndrome (BNS; 604919), shares clinical and histologic features and is also caused by somatic mutation in the ACTB gene.</p>
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<strong>Description</strong>
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<p>Congenital smooth muscle hamartoma (CSMH) is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy (Atzmony et al., 2020). </p>
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<strong>Clinical Features</strong>
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<p>Atzmony et al. (2020) reported a 2-year-old boy (MOS1) with hemihypertrichosis and hemihypertrophy and postzygotic mutation in the ACTB gene. Examination revealed right-sided hypertrichosis of the upper back and posterior right arm, as well as hemihypertrophy of the right upper extremity. Biopsy of the right upper arm showed increased numbers of small bundles of smooth muscle fibers in the dermis, some associated with hair follicles and some in between hair follicles. The authors diagnosed the boy with giant segmental congenital smooth muscle hamartoma (CSMH) and hemihypertrophy, noting that the large area of CSMH involvement along with the hemihypertrophy suggested a multilineage mesodermal mosaicism. </p>
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<strong>Inheritance</strong>
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<p>The identification by Atzmony et al. (2020) of mutation in the ACTB gene in fibroblasts from affected skin from patients with CSMH, but not in keratinocytes from the same lesion or in patient saliva, was consistent with somatic mosaicism. </p>
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<strong>Population Genetics</strong>
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<p>CSMH occurs in approximately 1 in 2,600 live births (summary by Atzmony et al., 2020). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In fibroblasts cultured from affected skin of a 2-year-old boy (MOS1) with segmental congenital smooth muscle hamartoma and hemihypertrophy, Atzmony et al. (2020) sequenced the ACTB gene and identified a previously reported postzygotic missense mutation, R147S, which was not found in keratinocytes from the same lesion or in patient saliva. The authors analyzed another 12 CSMH samples and identified somatic hotspot mutations in the ACTB gene in 8 samples, including the previously reported R147S mutation and recurrent mutations at residue G146: G146A (102630.0013), G146V (102630.0014), G146D (102630.0015), and G146S (102630.0016). The authors suggested that dissimilarities between Becker nevi and CSMHs might be determined by intrauterine environmental factors, mutation lineage or timing, and/or modifier genes, and that hypertrophy versus hypoplasia could be explained by different cell lineages being involved. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<p class="mim-text-font">
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Atzmony, L., Ugwu, N., Zaki, T. D., Antaya, R. J., Choate, K. A.
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<strong>Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.</strong>
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J. Cutan. Path. 47: 681-685, 2020.
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[PubMed: 32170967]
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[Full Text: https://doi.org/10.1111/cup.13683]
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Creation Date:
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</span>
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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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Anne M. Stumpf : 08/10/2023
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</span>
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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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alopez : 10/06/2023<br>alopez : 08/10/2023
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