外显率
遗传学
卵巢早衰
生物
基因
卵巢早衰
医学
表型
生物信息学
内科学
作者
Saleh Shekari,Stasa Stankovic,Eugene J. Gardner,Gareth Hawkes,Katherine A. Kentistou,Robin N. Beaumont,Alexander Mörseburg,Andrew R. Wood,Julia Prague,Gita D. Mishra,Felix R. Day,Júlia Baptista,Caroline F. Wright,Michael N. Weedon,Eva R. Hoffmann,Katherine S. Ruth,Ken K. Ong,John R. B. Perry,Anna Murray
出处
期刊:Nature Medicine
[Nature Portfolio]
日期:2023-06-22
卷期号:29 (7): 1692-1699
被引量:56
标识
DOI:10.1038/s41591-023-02405-5
摘要
). Collectively, our results suggest that, for the vast majority of women, POI is not caused by autosomal dominant variants either in genes previously reported or currently evaluated in clinical diagnostic panels. Our findings, plus previous studies, suggest that most POI cases are likely oligogenic or polygenic in nature, which has important implications for future clinical genetic studies, and genetic counseling for families affected by POI.
科研通智能强力驱动
Strongly Powered by AbleSci AI