Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Human Molecular Genetics

Volumn 24, Issue 13, 2015, Pages 3732-3741

  Pagnamenta, Alistair T ^a   Howard, Malcolm F ^a   Wisniewski, Eva ^b   Popitsch, Niko ^a   Knight, Samantha J L ^a   Keays, David A ^c   Quaghebeur, Gerardine ^d   Cox, Helen ^e   Cox, Phillip ^f   Balla, Tamas ^b   Taylor, Jenny C ^a   Kini, Usha ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e NHS Foundation Trust   (United Kingdom)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ASPARTIC ACID; DNA; PHOSPHATIDYLINOSITOL KINASE; PI4KA ENZYME; RNA; UNCLASSIFIED DRUG; MINOR HISTOCOMPATIBILITY ANTIGEN; PHOSPHATIDYLINOSITOL PHOSPHATE 4-KINASE; PHOSPHOTRANSFERASE;

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BODY WEIGHT; CASE REPORT; CELL LYSATE; CEREBELLUM HYPOPLASIA; CHROMOSOME; CHROMOSOME 22; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ASSAY; EXOME; FEMALE; FETUS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOME; HISTOPATHOLOGY; HUMAN; IMMUNOPRECIPITATION; MICROGYRIA; PREGNANCY TERMINATION; PRIORITY JOURNAL; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA EXTRACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; ABNORMALITIES; AMINO ACID SEQUENCE; BRAIN; CEREBELLUM; CHEMISTRY; DEVELOPMENTAL DISORDER; EMBRYOLOGY; ENZYMOLOGY; FETUS DISEASE; GENETICS; GERMLINE MUTATION; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NERVOUS SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

AMINO ACID SEQUENCE; ARTHROGRYPOSIS; BASE SEQUENCE; BRAIN; CEREBELLUM; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; FETAL DISEASES; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MINOR HISTOCOMPATIBILITY ANTIGENS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMICROGYRIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT;

EID: 84936747143     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv117     Document Type: Article

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