Article
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Molecular genetics & genomic medicine - 1 Aug 2021
Kaymakcalan Hande, Kaya İlyas, Cevher Binici Nagihan, Nikerel Emrah, Özbaran Burcu, Görkem Aksoy Mehmet, Erbilgin Seda, Özyurt Gonca, Jahan Noor, Çelik Didem, Yararbaş Kanay, Yalçınkaya Leyla, Köse Sezen, Durak Sibel, Ercan-Sencicek Adife Gulhan
Abstract excerpt
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. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult...
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