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Article

Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2010

Anastasovska Violeta, Kocova Mirjana

Abstract excerpt

UNLABELLED: Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity. METHODS: We have performed direct molecular diagnosis of the nine common CYP21A2 point mutations in 24 Macedonian CAH patients from 20 unrelated families,...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21175091
DOI: 10.1515/jpem.2010.147

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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