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Genetic Variation across Phenotypic Severity of Autism.
Trends in Genetics ( IF 11.4 ) Pub Date : 2020-02-06 , DOI: 10.1016/j.tig.2020.01.005 Claudio Toma 1
Trends in Genetics ( IF 11.4 ) Pub Date : 2020-02-06 , DOI: 10.1016/j.tig.2020.01.005 Claudio Toma 1
Affiliation
It is still unclear how genetic factors of autism spectrum disorder (ASD) are implicated in the significant clinical heterogeneity ranging from intellectual disability (ID) to high-functioning profiles. Here, evidence from recent genetic studies encompassing common and rare variants are combined to suggest a genetic model that may explain the broad gradient of phenotypic severity observed in ASD.
中文翻译:
自闭症表型严重性的遗传变异。
尚不清楚自闭症谱系障碍(ASD)的遗传因素如何涉及从智力残疾(ID)到高功能档案的重要临床异质性。在这里,来自最近的遗传研究的证据涵盖了常见和罕见的变体,被结合起来,提出了一个遗传模型,可以解释在ASD中观察到的表型严重性的广泛梯度。
更新日期:2020-02-07
中文翻译:
自闭症表型严重性的遗传变异。
尚不清楚自闭症谱系障碍(ASD)的遗传因素如何涉及从智力残疾(ID)到高功能档案的重要临床异质性。在这里,来自最近的遗传研究的证据涵盖了常见和罕见的变体,被结合起来,提出了一个遗传模型,可以解释在ASD中观察到的表型严重性的广泛梯度。