The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.

doi:10.1515/jpem.2005.18.2.143

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Article

The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2005

Chemaitilly W, Betensky B P, Marshall I, Wei J Q, Wilson R C, New M I

Abstract excerpt

The correlation of genotype to phenotype in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has been investigated thoroughly since the mapping of the CYP21 gene to the short arm of chromosome 6. In most instances, it is possible to accurately predict the phenotype based on g...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Child
Child, Preschool
DNA Mutational Analysis
Follow-Up Studies
Genotype
HLA Antigens
Humans
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Severity of Illness Index

Siblings

Sodium

Steroid 21-Hydroxylase

Water-Electrolyte Balance

Source

Open in PubMed

Identifiers

PMID: 15751603
DOI: 10.1515/jpem.2005.18.2.143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-15751603-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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