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Article

Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.

American journal of pharmacogenomics : genomics-related research in drug development and clinical practice - 1 Jan 2001

Speiser P W

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid biosynthesis most often attributable to mutations in CYP21 (also termed CYP21A2) encoding the active steroid 21-hydroxylase enzyme. This review focuses on clinical and genetic aspects of CAH, and updates the reader on current methodology and applications for molecular genetic diagnosis. Genotyping patients with CAH has revealed > 50...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12174671
DOI: 10.2165/00129785-200101020-00003

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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