Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity

IF 7.7 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2026-08-18 DOI:10.1016/j.ajhg.2026.08.009

Qiaoyu Cao, Anqi Zhao, Jianbo Wang, Xinjie Lin, Zhoukai Long, Chaolan Pan, Kai Yang, Chun Gu, Yumeng Wang, Lu Li, Xiaoxiao Wang, Jinran Lin, Wenyu Wu, Rushan Xia, Ming Li

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重叠的Xp21.2重复定义了x连锁单纯性毛少症，并涉及TAB3剂量敏感性

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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.