Article
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome
18 May 2022
Abstract excerpt
Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype-phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number...
Topics
Join the communities discussing this publication.