Phosphatase and Tensin Homolog (PTEN) gene mutations and autism: Literature review and a case report of a patient with cowden syndrome, autistic disorder, and epilepsy

Journal of Child Neurology

Volumn 27, Issue 3, 2012, Pages 392-397

  Conti, Sara ^a   Condò, Maria ^a   Posar, Annio ^a   Mari, Francesca ^b   Resta, Nicoletta ^c   Renieri, Alessandra ^b   Neri, Iria ^a   Patrizi, Annalisa ^a   Parmeggiani, Antonia ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY OF BARI   (Italy)

Author keywords

autism; Cowden syndrome; epilepsy; macrocephaly; phosphatase and tensin homolog gene; PTEN

Indexed keywords

HLA DQ2 ANTIGEN; HLA DQ8 ANTIGEN; LIOTHYRONINE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; THYROTROPIN; VALPROIC ACID;

ADOLESCENT; ARM; ARTICLE; AUTISM; BRAIN REGION; CASE REPORT; COWDEN SYNDROME; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; FOCAL EPILEPSY; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; KERATOSIS; MACROCEPHALY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPULAR SKIN DISEASE; PRIORITY JOURNAL; SKIN EXAMINATION;

ADOLESCENT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILY HEALTH; FEMALE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INFANT; MALE; MUTATION; PTEN PHOSPHOHYDROLASE;

EID: 84858673050     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811420296     Document Type: Article

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