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Article

Salt-wasting congenital adrenal hyperplasia: genotypical peculiarities in a Sicilian ethnic group.

Journal of endocrinological investigation - 1 Jul 2008

Wasniewska M, Caruso M, Indovina S, Crisafulli G, Mirabelli S, Salzano G, Arrigo T, De Luca F

Abstract excerpt

Here we report for the first time the results of the molecular study of 17 unrelated patients with salt-wasting (SW) congenital adrenal hyperplasia (CAH) belonging to a Sicilian ethnic group, as corroborated by patients' pedigree taken to include 2 generations in the paternal and maternal lineage. The aim of this report was to confirm that genetic basis of CAH may be characterized by population differences. In...

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Identifiers

PMID: 18787377
DOI: 10.1007/BF03345610

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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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