Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency | Zendy

Thushiga Kasippillai | Zendy; Daniel G. MacArthur | Zendy; Andrew Kirby | Zendy; Brett Thomas | Zendy; Cornelis B. Lambalk | Zendy; Mark J. Daly | Zendy; Corrine K. Welt | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency

Author(s) -

Thushiga Kasippillai,

Daniel G. MacArthur,

Andrew Kirby,

Brett Thomas,

Cornelis B. Lambalk,

Mark J. Daly,

Corrine K. Welt

Publication year - 2013

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2013-1102

Subject(s) - premature ovarian insufficiency , biology , premature ovarian failure , sanger sequencing , proband , genetics , ovarian reserve , genotype , mutation , gene , medicine , infertility , endocrinology , pregnancy

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research