S. Shekari, Stasa Stankovic, Eugene J. Gardner, G. Hawkes, K. Kentistou, R. Beaumont, A. Mörseburg, Andrew R. Wood, Julia K. Prague, Gita D. Mishra, F. Day, Julia Baptista, Caroline F. Wright, M. Weedon, Eva R. Hoffmann, K. Ruth, Ken K. Ong, John R. B. Perry, Anna Murray
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Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency
(Abstracted from Nat Med 2023;29:1692–1699)
Premature ovarian insufficiency (POI), defined as the loss of ovarian activity and permanent cessation of menstruation occurring before age 40 years, affects 1% of women and is a leading cause of infertility. Up to 90% of POI cases are idiopathic, with up to 30% of those having some familial association, suggesting a genetic basis.
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