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Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Archive ouverte | Kline, Brianna L | CCSD

International audience. The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but n...

Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency

Archive ouverte | Tucker, Elena J. | CCSD

International audience. Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes req...

Update on the genetics and genomics of premature ovarian insufficiency

Archive ouverte | Tucker, Elena J. | CCSD

International audience. Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result from failed ...

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