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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

Kaymakcalan, Hande; Kaya, Ilyas; Binici, Nagihan Cevher; Nikerel, Emrah; Ozbaran, Burcu; Aksoy, Mehmet Gorkem; Erbilgin, Seda (Wiley, 2021)

Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. ...