Serap Bilge
Department of Pediatric Neurology, Children Hospital of Diyarbakir, Diyarbakir, TurkeyPublications
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Review Article
Role of Genetic Mutations in Development of Autism Spectrum Disorder
Author(s): Serap Bilge57737*
Autism Spectrum Disorder (ASD) is a highly heritable neurodevelopmental disorder characterized clinically by repetitive stereotyped behaviors, restricted interests, and impaired social and communication skills and it is defined as a developmental disorder. In the past years, autism was confused with other monogenic disorders because the findings were similar. However, with the development of technology over the years, there have been many studies in the field of autism. Recent studies show that there are rare variants of autism as well as small-effect gene variants. Rare variants have more impact than known variants. The discovery of rare variants challenges traditional diagnostic boundaries and demonstrates the heterogeneity of autism. Studies on twins have proven that autism is one of the most common inherited disorders. In addition, it h.. Read More»
DOI: 10.31858/0975-8453.14.5.306-309