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Article

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

American journal of medical genetics. Part A - 1 Mar 2025

Lokchine Anna, Bergougnoux Anne, Servant Nadège, Akloul Linda, Launay Erika, Mary Laura, Cluzeau Laurence, Philippe Mathieu, Domin-Bernhard Mathilde, Duros Solène, Odent Sylvie, Tucker Elena, Paris Françoise, Belaud-Rotureau Marc-Antoine, Jaillard Sylvie

Abstract excerpt

Follicle stimulating hormone (FSH) is a key pituitary gonadotropic hormone implicated in human fertility and is crucial for folliculogenesis and recruitment of new antral follicles. Variations in its receptor, FSHR, can lead to diverse reproductive phenotypes including ovarian hyperstimulation syndrome (OHSS) and premature ovarian insufficiency (POI). This study reports a novel case of FSHR-related ovarian...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39497500
DOI: 10.1002/ajmg.a.63924

Genes

FSHR
AMH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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