Yao Zhe-feng

Clinical phenotypic and genotypic analysis of Gitelman syndrome in children

Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy caused by SLC12A3 variants, leading to hypokalemic metabolic alkalosis and other electrolyte disturbances. This study aimed to investigate the genotype and clinical phenotype in pediatric patients with GS. This stud...