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Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis
Journal article   Open access  Peer reviewed

Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis

Olivier Fortin, Mohammed Ashour, Caroline Lacroix, Christine A. Sabapathy and Kenneth A. Myers
Canadian journal of neurological sciences, Vol.47(6), pp.828-829
11/2020
DOI: https://doi.org/10.1017/cjn.2020.127
PMID: 32631464

Abstract

Neuroimaging Highlights
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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https://doi.org/10.1017/cjn.2020.127View
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