Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyri...
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somatic mosaic variant make confirmative diagnosis difficult. We present 12 patients who were diagnosed clinically and genetically with MCAP. G...
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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_37285cf9932f4f65a46d1b587b6242c5
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_37285cf9932f4f65a46d1b587b6242c5
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01480-y
