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Article

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

Molecular genetics and metabolism - 1 Apr 2007

Wilson Robert C, Nimkarn Saroj, Dumic Miro, Obeid Jihad, Azar Maryam Razzaghy, Azar Maryam, Najmabadi Hossein, Saffari Fatemeh, New Maria I

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) occurs worldwide. The most common mutations in the CYP21A2 gene in 716 unrelated patients were analyzed and the mutations were grouped by ethnicity, as defined through self-declaration corroborated by review of pedigrees extending to two or three generations. Prevalent allelic mutations and genotypes were found to vary significantly...

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Share to Adrenal Hyperplasia, Congenital
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17275379
DOI: 10.1016/j.ymgme.2006.12.005
PMCID: PMC1885892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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