Ontology highlight
ABSTRACT:
SUBMITTER: Yang X
PROVIDER: S-EPMC6874525 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Yang Xi X Zhang Xiaojin X Jiao Jiao J Zhang Feng F Pan Yuncheng Y Wang Qiqi Q Chen Qing Q Cai Baozhu B Tang Shuyan S Zhou Zixue Z Chen Siyuan S Yin Hao H Fu Wei W Luo Yang Y Li Da D Li Guoqing G Shang Lingyue L Yang Jialing J Jin Li L Shi Qinghua Q Wu Yanhua Y
Human genetics 20190918 11-12
Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects approximately 1% women under 40 years of age. Recent advances emphasize the genetic heterogeneity of POI. Fanconi anemia (FA) genes, traditionally known for their essential roles in DNA repair and cytogenetic instability, have been demonstrated to be involved in meiosis and germ cell development. Here, we conducted whole-exome sequencing (WES) in 50 Han Chinese female patients with POI. Rare missense v ...[more]