A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing | Zendy

Matthew S. Bramble | Zendy; E. Goldstein | Zendy; Allen Lipson | Zendy; Tuck C. Ngun | Zendy; Ascia Eskin | Zendy; Jason E. Gosschalk | Zendy; Lara Roach | Zendy; Neerja Vashist | Zendy; Hayk Barseghyan | Zendy; Eric Lee | Zendy; Valerie A. Arboleda | Zendy; Daniel Vaiman | Zendy; Zafer Yüksel | Zendy; Marc Fellous | Zendy; Éric Vilain | Zendy

Open Access

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

Author(s) -

Matthew S. Bramble,

E. Goldstein,

Allen Lipson,

Tuck C. Ngun,

Ascia Eskin,

Jason E. Gosschalk,

Lara Roach,

Neerja Vashist,

Hayk Barseghyan,

Eric Lee,

Valerie A. Arboleda,

Daniel Vaiman,

Zafer Yüksel,

Marc Fellous,

Éric Vilain

Publication year - 2016

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/dew025

Subject(s) - follicle stimulating hormone receptor , biology , missense mutation , ovarian reserve , follicle stimulating hormone , mutation , medicine , genetics , endocrinology , infertility , hormone , luteinizing hormone , gene , pregnancy

Can whole exome sequencing (WES) and in vitro validation studies be used to find the causative genetic etiology in a patient with primary ovarian failure and infertility?

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