Ontology highlight
ABSTRACT:
SUBMITTER: Xiao WJ
PROVIDER: S-EPMC6868891 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Xiao Wen-Juan WJ He Wen-Bin WB Zhang Ya-Xin YX Meng Lan-Lan LL Lu Guang-Xiu GX Lin Ge G Tan Yue-Qiu YQ Du Juan J
Frontiers in genetics 20191114
Premature ovarian insufficiency (POI) is a severe clinical syndrome defined by ovarian dysfunction in women less than 40 years old who generally manifest with infertility, menstrual disturbance, elevated gonadotrophins, and low estradiol levels. <i>STAG3</i> is considered a genetic aetiology of POI, which facilitates entry of REC8 into the nucleus of a cell and plays an essential role in gametogenesis. At present, only six truncated variants associated with POI have been reported; there have bee ...[more]