AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

作者:Nakamura K*; Kato M; Tohyama J; Shiohama T; Hayasaka K; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Matsumoto N; Saitsu H
来源:Clinical Genetics, 2014, 85(4): 396-398.
DOI:10.1111/cge.12188