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Article

Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.

Genomics - 1 Sept 1995

Day D J, Speiser P W, White P C, Barany F

Abstract excerpt

Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol that occurs in 1 in 10,000-15,000 births. Affected females are born with ambiguous genitalia, a condition that can be ameliorated by administering dexamethasone to the mother for most of gestation. Prenatal diagnosis is required for accurate treatment of affected females as...

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Identifiers

PMID: 8530065
DOI: 10.1006/geno.1995.1226

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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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