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Article

Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Nov 2020

Fortin Olivier, Ashour Mohammed, Lacroix Caroline, Sabapathy Christine A, Myers Kenneth A

Abstract excerpt

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).

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PMID: 32631464
DOI: 10.1017/cjn.2020.127

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