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Article

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

4 Mar 2019

Abstract excerpt

CONTEXT: Primary ovarian insufficiency (POI) is a cause of female infertility. However, the genetic etiology of this disorder remains unknown in most patients with POI. OBJECTIVE: To investigate the genetic etiology of idiopathic POI. PATIENTS AND METHODS: We performed whole-exome sequencing of 11 families with idiopathic POI. To gain insights into the potential mechanisms associated with this mutation, we...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Ovarian function and disorders
Share to Reproductive Biology and Fertility

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PMID: 30830215
DOI: 10.1210/jc.2018-02485

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