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Article

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

The Journal of steroid biochemistry and molecular biology - 1 Jan 2017

Dumic Katja K, Grubic Zorana, Yuen Tony, Wilson Robert C, Kusec Vesna, Barisic Ingeborg, Stingl Katarina, Sansovic Ivona, Skrabic Veselin, Dumic Miroslav, New Maria I

Abstract excerpt

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is caused by mutation in the CYP21A2 gene. The frequency and spectrum of CYP21A2 mutations and genotype-phenotype correlations among different populations are variable. Aim of this study was to define mutation frequency and spectrum of CYP21A2 gene mutations in patients with classical 21-hydroxylase deficiency (21OHD) and their family members in...

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PMID: 27041116
DOI: 10.1016/j.jsbmb.2016.03.035

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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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