Genotype –phenotype correlations in children with Gitelman syndrome

ConclusionsPatients with GS who had truncating variants in one or both alleles had more severe electrolyte abnormalities than those without truncating variants. Patients with GS who had monoallelicSLC12A3 variants on examination had almost the same phenotypes, response to treatment, and long-term prognosis as those with biallelic variants.
Source: Clinical and Experimental Nephrology - Category: Urology & Nephrology Source Type: research