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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 con...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Alleles
Androstenedione
Exons
Female
Gene Conversion
Genotype
Humans
Infant, Newborn
Introns
Male
Mineralocorticoids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Biology

Mutation

Neonatal Screening

Nucleic Acid Hybridization

Phenotype

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9290628-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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

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