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

Clinical Genetics

Volumn 85, Issue 4, 2014, Pages 396-398

  Nakamura, K ^a,b   Kato, M ^b   Tohyama, J ^c   Shiohama, T ^d   Hayasaka, K ^b   Nishiyama, K ^a   Kodera, H ^a   Nakashima, M ^a   Tsurusaki, Y ^a   Miyake, N ^a   Matsumoto, N ^a   Saitsu, H ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^d KIMITSU CHUO HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SH2; AKT3 PROTEIN, HUMAN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHOINOSITOL-3 KINASE REGULATORY SUBUNIT 2, HUMAN; PROTEIN KINASE B;

AKT3 GENE; ALEXANDER DISEASE; ALLELE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENETIC DISORDER; HEMISPHERE; HUMAN; INFANT; LETTER; MALE; MEGALENCEPHALY CAPILLARY MALFORMATION SYNDROME; MEGALENCEPHALY POLYMICROGYRIA POLYDACTYLY HYDROCEPHALUS SYNDROME; MICROANGIOPATHY; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MYELIN DEFICIENCY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PIK3R2 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; ABNORMALITIES, MULTIPLE; GENETICS; HYDROCEPHALUS; MUTATION; POLYDACTYLY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; HUMANS; HYDROCEPHALUS; INFANT; MALE; MEGALENCEPHALY; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; POLYDACTYLY; PROTO-ONCOGENE PROTEINS C-AKT; SYNDROME;

EID: 84896718884     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12188     Document Type: Letter

References (8)

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