Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis

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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Published in:Canadian journal of neurological sciences 2020-11, Vol.47 (6), p.828-829
Main Authors: Fortin, Olivier, Ashour, Mohammed, Lacroix, Caroline, Sabapathy, Christine A., Myers, Kenneth A.
Format: Article
Language:English
Subjects:
Mutation
Neuroimaging Highlights
Sinuses
Thrombosis
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description 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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subjects Mutation
Neuroimaging Highlights
Sinuses
Thrombosis
title Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis
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