کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5893713 1153920 2013 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Recent developments in the genetics of autism spectrum disorders
ترجمه فارسی عنوان
تحولات اخیر در ژنتیک اختلالات طیف اوتیسم
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی تکاملی
چکیده انگلیسی
The last several years have marked a turning point in the genetics of autism spectrum disorder (ASD) due to rapidly advancing genomic technologies. As the pool of bona fide risk genes and regions accumulates, several key themes have emerged: these include the important role of rare and de novo mutation, the biological overlap among so-called syndromic and 'idiopathic' ASD, the elusive nature of the common variant contribution to risk, and the observation that the tremendous locus heterogeneity underlying ASD appears to converge on a relatively small number of key biological processes. Perhaps most striking has been the revelation that ASD mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, language impairment, epilepsy and typical development.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Current Opinion in Genetics & Development - Volume 23, Issue 3, June 2013, Pages 310-315
نویسندگان
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