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Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Nephron - 1 Jan 2023

Vaisbich Maria Helena, Messa Ana Carola Hebbia Lobo, Rangel-Santos Andréia Cristiane, Ferreira Juliana Caires de Oliveira Achili, Nunes Fernanda Andrade M da F, Watanabe Andreia

Abstract excerpt

BACKGROUND: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry. METHODS: We...

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PMID: 36882007
DOI: 10.1159/000528557

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