Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.

doi:10.1530/acta.0.1260007

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Article

Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.

Acta endocrinologica - 1 Jan 1992

Bormann M, Kochhan L, Knorr D, Bidlingmaier F, Olek K

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-450(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-450(c21) genes, suggesting that other effects play a role in developing the...

Topics

Adrenal Hyperplasia, Congenital
Bacterial Proteins
Base Sequence
Blotting, Southern
Child
Chromosome Deletion
DNA
Deoxyribonucleases, Type II Site-Specific
Exons
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Male

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Promoter Regions, Genetic

Source

Open in PubMed

Identifiers

PMID: 1736550
DOI: 10.1530/acta.0.1260007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1736550-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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