Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency | Zendy

Justine Bouilly | Zendy; Isabelle Beau | Zendy; Sara Barraud | Zendy; Valérie Bernard | Zendy; K. Azibi | Zendy; Jérôme Fagart | Zendy; Anne Fèvre | Zendy; AnneLaure Todeschini | Zendy; Reiner A. Veitia | Zendy; Chérif Beldjord | Zendy; Brigitte Delemer | Zendy; Catherine Dodé | Zendy; Jacques Young | Zendy; Nadine Binart | Zendy

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Author(s) -

Justine Bouilly,

Isabelle Beau,

Sara Barraud,

Valérie Bernard,

K. Azibi,

Jérôme Fagart,

Anne Fèvre,

AnneLaure Todeschini,

Reiner A. Veitia,

Chérif Beldjord,

Brigitte Delemer,

Catherine Dodé,

Jacques Young,

Nadine Binart

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2152

Subject(s) - genetics , candidate gene , missense mutation , biology , premature ovarian insufficiency , context (archaeology) , gene , phenotype , mutation , medicine , paleontology

Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder.

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