Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
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DOI: 10.1159/000528557
Abstract: 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… read more here.
Keywords: syndrome related; worldwide cohorts; del; related variants ... See more keywords