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Article

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.

European journal of endocrinology - 1 Jun 2006

Luczay A, Török D, Ferenczi A, Majnik J, Sólyom J, Fekete Gy

Abstract excerpt

OBJECTIVE: Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the sensitizing N363S polymorphism of the glucocorticoid receptor (GR) was examined in CAH patients. DESIGN: CAH patients were screened for N363S. Laboratory findings and...

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Share to Adrenal Hyperplasia, Congenital
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

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Share to Polymerase Chain Reaction

Share to Receptors, Glucocorticoid

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 16728546
DOI: 10.1530/eje.1.02162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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