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

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

Abstract 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 macr...

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Main Authors: Hande Kaymakcalan, İlyas Kaya, Nagihan Cevher Binici, Emrah Nikerel, Burcu Özbaran, Mehmet Görkem Aksoy, Seda Erbilgin, Gonca Özyurt, Noor Jahan, Didem Çelik, Kanay Yararbaş, Leyla Yalçınkaya, Sezen Köse, Sibel Durak, Adife Gulhan Ercan‐Sencicek
Format: Article
Language:English
Published: Wiley 2021-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autism spectrum disorder
macrocephaly
mutation
prevalence
PTEN
Online Access:https://doi.org/10.1002/mgg3.1739

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