Genotype-phenotype correlations in children with Gitelman syndrome.
Myung Hyun ChoPeong Gang ParkJi Hyun KimKyung Mi JangJiwon M LeeEun Mi YangSe Jin ParkJin-Soon SuhHeeyeon ChoJung Won LeeJoo Hoon LeeJa Wook KooMee Kyung NamgoongKee Hyuck KimYo Han AhnHee Gyung KangHae Il CheongPublished in: Clinical and experimental nephrology (2024)
Patients 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 monoallelic SLC12A3 variants on examination had almost the same phenotypes, response to treatment, and long-term prognosis as those with biallelic variants.