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Article

Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Mar 1993

Karl M, Lamberts S W, Detera-Wadleigh S D, Encio I J, Stratakis C A, Hurley D M, Accili D, Chrousos G P

Abstract excerpt

The clinical syndrome of generalized, compensated glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hyper- or hypocortisolism, and manifestations of androgen and/or mineralocorticoid excess. This condition results from partial failure of the glucocorticoid receptor (GR) to modulate transcription of its target genes. We studied the molecular mechanisms of this...

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Source

Identifiers

PMID: 8445027
DOI: 10.1210/jcem.76.3.8445027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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