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Article

No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2014

Norling A, Hirschberg A L, Karlsson L, Rodriguez-Wallberg K A, Iwarsson E, Wedell A, Barbaro M

Abstract excerpt

Ovarian dysfunction before the age of 40 years, characterized by hypergonadotropic hypogonadism and presenting with either primary or secondary amenorrhea, is called primary ovarian insufficiency (POI). POI has a significant genetic component, but the specific genetic cause is often unknown. A novel candidate gene for POI, PSMC3IP, has recently been identified. The aim of this study was to investigate a group of...

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PMID: 24481226
DOI: 10.1159/000357605

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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