Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 163, Issue 2, 2013, Pages 122-130

  Mirzaa, Ghayda M ^a   Rivière, Jean Baptiste ^b   Dobyns, William B ^c  

^a Seattle Children's Research Institute   (United States)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c NONE

Author keywords

AKT3; Capillary malformations; Megalencephaly; Mosaicism; Overgrowth; PI3K AKT pathway; PIK3CA; PIK3R2; Polymicrogyria

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B;

ALEXANDER DISEASE; AMINO ACID SUBSTITUTION; ANGIOOSTEOHYPERTROPHY SYNDROME; ARNOLD CHIARI MALFORMATION; ARTICLE; BANNAYAN RILEY RUVALCABA SYNDROME; BODY GROWTH; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CAPILLARY; CONGENITAL BLOOD VESSEL MALFORMATION; CONNECTIVE TISSUE DISEASE; CUTIS MARMORATA TELANGIECTATICA CONGENITA; DYSPLASTIC MEGALENCEPHALY; GENE FREQUENCY; GENE MUTATION; GERM LINE; HIGH RISK PATIENT; HUMAN; HYDROCEPHALUS; MEGALENCEPHALY CAPILLARY MALFORMATION SYNDROME; MEGALENCEPHALY POLYMICROGYRIA POLYDACTYLY HYDROCEPHALUS SYNDROME; MICROGYRIA; MOSAICISM; MUTATIONAL ANALYSIS; PERISYLVIAN POLYMICROGYRIA; PHENOTYPE; PHENOTYPIC VARIATION; POLYDACTYLY; PRIORITY JOURNAL; SKIN BLOOD VESSEL DISORDER; SYNDACTYLY;

HUMANS; MACROCEPHALY; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; SYNDROME;

MURINAE;

EID: 84876806696     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31361     Document Type: Article

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