Article
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 2013
Kasippillai Thushiga, MacArthur Daniel G, Kirby Andrew, Thomas Brett, Lambalk Cornelius B, Daly Mark J, Welt Corrine K
Abstract excerpt
CONTEXT: Primary ovarian insufficiency (POI), or premature ovarian failure, results from ovarian follicle depletion with a consequent elevation of FSH levels before age 40 years. We identified a family in which 9 women in 3 consecutive generations developed menopause at approximately age 30 years. We hypothesized a genetic cause with a dominant mode of inheritance. DESIGN: This was a family-based genetic study...
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