Genetic Variation across Phenotypic Severity of Autism

被引：20
|
作者：
Toma, Claudio [1 ,2 ,3 ]
机构：
[1] Neurosci Res Australia, Sydney, NSW, Australia
[2] Univ New South Wales, Sch Med Sci, Sydney, NSW, Australia
[3] Univ Autonoma Madrid, CSIC, Ctr Biol Mol Severo Ochoa, E-28049 Madrid, Spain
来源：
TRENDS IN GENETICS | 2020年 / 36卷 / 04期
基金：
澳大利亚国家健康与医学研究理事会;
关键词：
DE-NOVO; MUTATIONS; BURDEN; RARE;
D O I：
10.1016/j.tig.2020.01.005
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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 highfunctioning 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.
引用
收藏
页码：228 / 231
页数：5
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