PTEN mutation in a family with Cowden syndrome and autism

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 105, Issue 6, 2001, Pages 521-524

  Goffin, Aleide ^a   Hoefsloot, Lies H ^b   Bosgoed, Ermanno ^b   Swillen, Ann ^a   Fryns, Jean Pierre ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Autism; Cowden syndrome; Multiple hamartoma syndrome; PTEN mutation

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; AUTISM; CASE REPORT; COWDEN SYNDROME; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; INTELLIGENCE; MACROCEPHALY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SOCIAL INTERACTION;

AUTISTIC DISORDER; CHILD; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 0035828080     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.1477     Document Type: Article

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