Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

IF 8.1 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2025-10-02 Epub Date: 2025-09-12 DOI:10.1016/j.ajhg.2025.09.005

David Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, Angeliki Spathopoulou, Marta Suarez-Cubero, Hesso Farhan, Veronika Reiterer, Melanie Spanjaard, Christian P Schaaf, Lukas A Huber, Leopold Kremser, Bettina Sarg, Frank Edenhofer, Stephan Geley, Mariana E G de Araujo, Alexander Huettenhofer

引用次数: 0

查看原文本刊更多论文

MAGEL2的截断变体与Schaaf-Yang综合征和Prader-Willi综合征的病因有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.