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Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis
Olivier Fortin1, Mohammed Ashour1,2, Caroline Lacroix3
1Department of Pediatrics, Division of Child Neurology, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
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).
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