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

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

Abstract 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...

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Bibliographic Details
Main Authors: Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko
Format: Article
Language:English
Published: BMC 2020-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PIK3CA
Somatic overgrowth
Megalencephaly
Asymmetry
Cutaneous vascular malformation
Online Access:http://link.springer.com/article/10.1186/s13023-020-01480-y

Internet

http://link.springer.com/article/10.1186/s13023-020-01480-y

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