Article
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
The Journal of clinical endocrinology and metabolism - 1 Feb 2017
Smirin-Yosef Pola, Zuckerman-Levin Nehama, Tzur Shay, Granot Yaron, Cohen Lior, Sachsenweger Juliane, Borck Guntram, Lagovsky Irina, Salmon-Divon Mali, Wiesmüller Lisa, Basel-Vanagaite Lina
Abstract excerpt
Context: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty. Objective: To elucidate the cause of ovarian dysfunction in a family with POI. Design: We performed whole-exome sequencing in 2 affected individuals. To evaluate whether DNA...
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