Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

doi:10.1210/jc.2010-0319

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Article

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jan 2011

Finkielstain Gabriela P, Chen Wuyan, Mehta Sneha P, Fujimura Frank K, Hanna Reem M, Van Ryzin Carol, McDonnell Nazli B, Merke Deborah P

Abstract excerpt

BACKGROUND: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. STUDY OBJECTIVE: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. METHODS: Targeted CYP21...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Aged
Alleles
Blotting, Southern
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Genotype

Humans

Infant

Male

Middle Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 20926536
DOI: 10.1210/jc.2010-0319
PMCID: PMC3038490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-20926536-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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