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Article

Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Grigorescu-Sido Anca, Schulze Egbert, Grigorescu-Sido Paula, Heinrich Udo, Nistor Tiberiu, Duncea Ileana

Abstract excerpt

The regional incidence of 21-hydroxylase deficiency, its mutational spectrum and the correlation of genotype and phenotype has been studied by European, American and Latin-American groups. However, little information is known about the molecular background of the disease in patients from Central-Eastern Europe. The present study aimed to genotype a group of patients from Transylvania, the north-western part of...

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Source

Identifiers

PMID: 12503858
DOI: 10.1515/jpem.2002.15.9.1505

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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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