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Article

CSB-PGBD3 Mutations Cause Premature Ovarian Failure

28 Jul 2015

Abstract excerpt

Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 sporadic cases, we...

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PMID: 26218421
DOI: 10.1371/journal.pgen.1005419

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