Di Donato, Nataliya

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". [electronic resource] - Human mutation Mar 2016 - 242-5 p. digital

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

1098-1004

10.1002/humu.22933 doi


Child
Class I Phosphatidylinositol 3-Kinases
Humans
Male
Megalencephaly--genetics
Mutation
Phosphatidylinositol 3-Kinases--genetics