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Article

Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.

European journal of endocrinology - 1 Apr 2008

Raef Hussein, Baitei Essa Y, Zou Minjing, Shi Yufei

Abstract excerpt

OBJECTIVE: Glucocorticoid resistance is a rare sporadic or familial condition that is characterized by generalized, partial resistance to glucocorticoids. It is caused by a mutation in the glucocorticoid receptor-alpha (GR-alpha) gene. We aimed to understand the reasons for different phenotypes (severe to asymptomatic) observed in a family with primary cortisol resistance. DESIGN: The genotype leading to cortisol...

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PMID: 18362306
DOI: 10.1530/EJE-07-0629

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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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