An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature

Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease

(2014) Jan W. Koper et al.   STEROIDS

A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain

(2010) Nancy Nader et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation

(2010) P. Trebble et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)

(2009) Sarah K. McMahon et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene

(2009) Paolo Maltese et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

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

(2008) Hussein Raef et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms, and Implications of a Rare Genetic Disorder

(2008) Evangelia Charmandari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM