期刊
PSYCHIATRIC CLINICS OF NORTH AMERICA
卷 33, 期 1, 页码 83-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.psc.2009.12.002
关键词
Autism genetics; Rare variants; Copy number variation; Association
类别
资金
- NIMH NIH HHS [RC2 MH089956, RC2 MH089956-01] Funding Source: Medline
- NATIONAL INSTITUTE OF MENTAL HEALTH [RC2MH089956] Funding Source: NIH RePORTER
Autism spectrum disorders (ASDs) are highly heritable. Gene discovery promises to help illuminate the pathophysiology of these syndromes, yielding opportunities for the development of novel treatments and understanding of their natural history. Although the underlying genetic architecture of ASDs is not yet known, the literature demonstrates that it is not a monogenic disorder with mendelian inheritance, rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes. This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries.
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