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Article

Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.

The Journal of pediatrics - 1 Aug 1997

Witchel S F, Nayak S, Suda-Hartman M, Lee P A

Abstract excerpt

Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (CYP21) were obtained from 15 infants identified through a voluntary newborn screening program. Mutations were identified on both CYP21 alleles in 12 (80%) of 15 infants; all had confirmatory plasma 17-hydroxyprogesterone concentrations > 3500 ng/dl. No patient was found to carry mutations associated...

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PMID: 9290628
DOI: 10.1016/s0022-3476(97)70178-1

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

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Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.PMID 9290628Read ↗

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[Mutation analysis in families with 21-hydroxylase deficiency].Semantic proximity Read ↗

Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.Semantic proximity Read ↗

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