title: AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: J
authors.initials: J
authors.lastname: Tohyama
authors.forename: T
authors.initials: T
authors.lastname: Shiohama
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: K
authors.initials: K
authors.lastname: Nishiyama
authors.forename: H
authors.initials: H
authors.lastname: Kodera
authors.forename: M
authors.initials: M
authors.lastname: Nakashima
authors.forename: Y
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Saitsu
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D008297:Male; D058627:Megalencephaly / Q000235:genetics*; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*; D013577:Syndrome
chemical_list: D019869:Phosphatidylinositol 3-Kinases; C560566:phosphoinositol-3 kinase regulatory subunit 2, human; C491754:AKT3 protein, human; D051057:Proto-Oncogene Proteins c-akt