Article
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Delcour Clémence, Amazit Larbi, Patino Liliana C, Magnin Françoise, Fagart Jérôme, Delemer Brigitte, Young Jacques, Laissue Paul, Binart Nadine, Beau Isabelle
Abstract excerpt
PURPOSE: Primary ovarian insufficiency (POI) is a frequent disorder that affects ~1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and elevated plasma levels of follicle-stimulating hormone (FSH), leads to infertility. Although various etiological factors have been described, including chromosomal abnormalities and gene variants, most cases remain...
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