Genetic architecture in autism spectrum disorder
Genetic architecture in autism spectrum disorder
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DOI：
10.1016/j.gde.2012.03.002
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发表时间：
2012-06-01
影响因子：
4
通讯作者：
Scherer, Stephen W.
中科院分区：
文献类型：
--
作者：
Devlin, Bernie;Scherer, Stephen W.
自闭症谱系障碍（ASD）的特征是在相互的社会互动和沟通障碍，并通过限制和重复的行为。家族研究表明ASD易感性的重要遗传基础，基因组扫描开始阐明潜在的遗传结构。大约5-15%的ASD患者具有与已知的染色体重排或单基因疾病相对应的可识别的遗传病因。Rare（
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social interaction and communication, and by restricted and repetitive behaviors. Family studies indicate a significant genetic basis for ASD susceptibility, and genomic scanning is beginning to elucidate the underlying genetic architecture. Some 5-15% of individuals with ASD have an identifiable genetic etiology corresponding to known chromosomal rearrangements or single gene disorders. Rare (