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

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

(2010) Antonia Parmeggiani et al.   BRAIN & DEVELOPMENT

Autistic Spectrum Disorder in a 9-Year-Old Girl With Macrocephaly

(2010) Martin T. Stein et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay

(2009) N E Lynch et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Bilateral and symmetrical palmoplantar punctate keratoses in childhood: a possible clinical clue for an early diagnosis ofPTENhamartoma-tumour syndrome

(2009) M. Ferran et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

(2008) G Bradley Schaefer et al.   GENETICS IN MEDICINE

Cowden Syndrome: A Critical Review of the Clinical Literature

(2008) Robert Pilarski   Journal of Genetic Counseling