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Article

A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.

European journal of endocrinology - 30 Mar 2024

Laulhé Margaux, Kuhn Emmanuelle, Bouligand Jérôme, Amazit Larbi, Perrot Julie, Lebigot Elise, Kamenickỷ Peter, Lombès Marc, Fagart Jérôme, Viengchareun Say, Martinerie Laetitia

Abstract excerpt

OBJECTIVE: Glucocorticoid resistance is a rare endocrine disease caused by variants of the NR3C1 gene encoding the glucocorticoid receptor (GR). We identified a novel heterozygous variant (GRR569Q) in a patient with uncommon reversible glucocorticoid resistance syndrome. METHODS: We performed ex vivo functional characterization of the variant in patient fibroblasts and in vitro through transient transfection in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38584335
DOI: 10.1093/ejendo/lvae031

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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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