Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis
2020 ◽
Vol 47
(6)
◽
pp. 828-829
Keyword(s):
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).
2009 ◽
Vol 2009
◽
pp. 261-263
Keyword(s):
1998 ◽
Vol 39
(4)
◽
pp. 667