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Article

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

Clinical endocrinology - 1 Jul 2000

Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F

Abstract excerpt

OBJECTIVES: We have genotyped the patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency identified from March 1980 to December 1997 through a combined program of neonatal screening and case survey in the Emilia-Romagna Region (Italy). We have also analysed retrospectively the possible advantages of genotypical neonatal classification. DESIGN: A 'phase A' of screening and clinical...

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Identifiers

PMID: 10931088
DOI: 10.1046/j.1365-2265.2000.01048.x

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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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