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

doi:10.1007/BF03345610

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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...

Topics

Adrenal Hyperplasia, Congenital
DNA Mutational Analysis
Ethnicity
Gene Frequency
Genotype
Humans
Male
Phenotype
Point Mutation
Sicily
Sodium
Sodium Chloride, Dietary
Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 18787377
DOI: 10.1007/BF03345610

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-18787377-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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