Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

European Journal of Human Genetics

Volumn 22, Issue 2, 2014, Pages 273-276

  Hobert, Judith A ^a   Embacher, Rebecca ^a   Mester, Jessica L ^a,b   Frazier, Thomas W ^a   Eng, Charis ^a,b,c  

^a LERNER RESEARCH INSTITUTE   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

autism spectrum disorder; Cowden syndrome; macrocephaly; PTEN

Indexed keywords

ASPARTIC ACID; CARBOXYLIC ACID; CYSTINE; GENOMIC DNA; METHIONINE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; TAURINE; PTEN PROTEIN, HUMAN;

AMINO ACID BLOOD LEVEL; ARTICLE; AUTISM; BLOOD SAMPLING; DSM-IV-TR; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; PRIORITY JOURNAL; URINALYSIS; ADOLESCENT; ADULT; ALEXANDER DISEASE; BLOOD; CHILD; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; URINE; YOUNG ADULT;

ADOLESCENT; ADULT; ASPARTIC ACID; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CYSTINE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEGALENCEPHALY; MIDDLE AGED; PTEN PHOSPHOHYDROLASE; TAURINE; YOUNG ADULT;

EID: 84892832761     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.114     Document Type: Article

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