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Article

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Orphanet journal of rare diseases - 10 Aug 2020

Park Hyun Jin, Shin Chang Ho, Yoo Won Joon, Cho Tae-Joon, Kim Man Jin, Seong Moon-Woo, Park Sung Sup, Lee Jeong Ho, Sim Nam Suk, Ko Jung Min

Abstract excerpt

BACKGROUND: 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. Genomic DNA was extracted mainly from the skin of...

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Identifiers

PMID: 32778138
DOI: 10.1186/s13023-020-01480-y
PMCID: PMC7418424

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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