Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

Journal of Medical Genetics

Volumn 42, Issue 4, 2005, Pages 318-321

  Butler, Merlin G ^a,f   Dazouki, M J ^a   Zhou, X P ^b   Talebizadeh, Z ^a   Brown, M ^a   Takahashi, T N ^c   Miles, J H ^c   Wang, C H ^d   Stratton, R ^e   Pilarski, R ^b   Eng, C ^b  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c University of Missouri   (United States)

^d STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^e Southwest Genetics   (United States)

^f CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; AUTISM; BANNAYAN RILEY RUVALCABA SYNDROME; CLINICAL ARTICLE; COGNITIVE DEFECT; COWDEN SYNDROME; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GERM LINE; GROWTH DISORDER; HAMARTOMA; HEAD CIRCUMFERENCE; HUMAN; MACROCEPHALY; MALE; MULTIPLE CANCER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECURRENCE RISK; TUMOR SUPPRESSOR GENE;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PTEN PHOSPHOHYDROLASE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY;

EID: 20244367771     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.024646     Document Type: Article

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