Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge

Letter to the Editor
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VOLUME 118, ISSUE 2, P421-424

Authors:

Abdelkader Heddar, M.D., Micheline Misrahi, M.D., Ph.D.

Abstract:

Primary ovarian insufficiency (POI) affects 1% of women ≤40 years of age (1). Next-generation sequencing, especially whole-exome sequencing (WES), has recently unraveled many novel genetic causes (1).
Very recently, Rouen et al. (2) used WES in 36 familial cases of POI and report a positive diagnostic yield of 50% in this issue of Fertility and Sterility.

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