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Article

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.

Recent progress in hormone research - 1 Jan 1994

Speiser P W, White P C, Dupont J, Zhu D, Mercado A, New M I

Abstract excerpt

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed in the majority of cases. Southern blot analysis was carried out to identify deletions or other gross rearrangements. In parallel, the...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 8146433
DOI: 10.1016/b978-0-12-571149-4.50026-x

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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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