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Article

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.

European journal of human genetics : EJHG - 1 Jun 2010

Kuechler Amla, Hauffa Berthold P, Köninger Angela, Kleinau Gunnar, Albrecht Beate, Horsthemke Bernhard, Gromoll Jörg

Abstract excerpt

Follicle-stimulating hormone (FSH) mediated by its receptor (FSHR) is pivotal for normal gametogenesis. Inactivating FSHR mutations are known to cause hypergonadotropic hypogonadism with disturbed follicular maturation in females. So far, only very few recessive point mutations have been describe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20087398
DOI: 10.1038/ejhg.2009.244
PMCID: PMC2987335

Genes

FSHR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20087398-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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