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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...

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Identifiers

PMID: 1736550
DOI: 10.1530/acta.0.1260007

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Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

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