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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 CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of...

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Identifiers

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

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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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