巨脑-毛细血管畸形-多小脑回合并脑静脉血栓形成。
Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
机构信息
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.
出版信息
Can J Neurol Sci. 2020 Nov;47(6):828-829. doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23.
PMID:32631464
Abstract
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).
摘要
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。
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