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Article

STAG3 truncating variant as the cause of primary ovarian insufficiency.

European journal of human genetics : EJHG - 1 Jan 2016

Le Quesne Stabej Polona, Williams Hywel J, James Chela, Tekman Mehmet, Stanescu Horia C, Kleta Robert, Ocaka Louise, Lescai Francesco, Storr Helen L, Bitner-Glindzicz Maria, Bacchelli Chiara, Conway Gerard S

Abstract excerpt

Primary ovarian insufficiency (POI) is a distressing cause of infertility in young women. POI is heterogeneous with only a few causative genes having been discovered so far. Our objective was to determine the genetic cause of POI in a consanguineous Lebanese family with two affected sisters presenting with primary amenorrhoea and an absence of any pubertal development. Multipoint parametric linkage analysis was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26059840
DOI: 10.1038/ejhg.2015.107
PMCID: PMC4795223

Genes

STAG3

Provenance

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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