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A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong

Clin Exp Pediatr. 2016;59(Suppl 1):S103-S106. Published online November 30, 2016

Crossref 3

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S103

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