Megalencephaly-capillary malformation syndrome
Definition:
References:
-
[1]. Ghayda M Mirzaa, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb;158A(2):269-91. [Content Brief]
[2]. Jean-Baptiste Rivière, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. [Content Brief]