De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière, Jean-Baptiste

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. [electronic resource] - Nature genetics Jun 2012 - 934-40 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.2331 doi


Class I Phosphatidylinositol 3-Kinases
Exome
Germ-Line Mutation
Humans
Hydrocephalus--enzymology
Malformations of Cortical Development--enzymology
Megalencephaly--enzymology
Mutation
Mutation, Missense
Phosphatidylinositol 3-Kinases--genetics
Proto-Oncogene Proteins c-akt--genetics
Syndrome