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Article

A large view of CYP21 locus among Sicilians and other populations: identification of a novel CYP21A2 variant in Sicily.

Journal of endocrinological investigation - 1 Dec 2011

Niceta M, Bono M, Fabiano C, Pojero F, Niceta F, Sammarco P, Corsello G, Garofalo P

Abstract excerpt

BACKGROUND: Several mutations in CYP21 locus cause 21-hydroxylase deficiency (21-OHD). The most common mutations are widespread among different geographic areas and their frequencies have been also reported to differ among certain populations. AIM: To obtain a large view on the frequencies of the...

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PMID: 21169732
DOI: 10.3275/7417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21169732-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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