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

Clin Genet. 2014 Apr;85(4):396-8. doi: 10.1111/cge.12188. Epub 2013 Jun 10.

Authors

K Nakamura¹, M Kato, J Tohyama, T Shiohama, K Hayasaka, K Nishiyama, H Kodera, M Nakashima, Y Tsurusaki, N Miyake, N Matsumoto, H Saitsu

Affiliation

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.

PMID: 23745724
DOI: 10.1111/cge.12188

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / etiology
Abnormalities, Multiple / genetics*
Child
Female
Humans
Hydrocephalus / genetics
Infant
Male
Megalencephaly / genetics*
Mutation*
Phosphatidylinositol 3-Kinases / genetics*
Polydactyly / genetics
Proto-Oncogene Proteins c-akt / genetics*
Syndrome

Substances

Phosphatidylinositol 3-Kinases
phosphoinositol-3 kinase regulatory subunit 2, human
AKT3 protein, human
Proto-Oncogene Proteins c-akt