Department of Pediatrics, Division of Child Neurology, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
Department of Pediatrics, University of Jeddah, Jeddah, Saudi Arabia.
Can J Neurol Sci. 2020 Nov;47(6):828-829. doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23.
Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834).
巨脑-毛细血管畸形-多小脑回畸形（MCAP）综合征（OMIM#602501）的特征为巨脑、中线毛细血管畸形和皮质畸形。这种遗传性过度生长综合征与镶嵌性获得功能致病性 PIK3CA 变异体（OMIM#171834）相关。
