Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

Abstract An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT wa...

Full description

Bibliographic Details
Main Authors: Somayeh Takrim Nojehdeh, Marzieh Mojbafan, Nakysa Hooman, Rozita Hoseini, Hasan Otukesh
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Clinical Case Reports
Subjects:
Bartter syndrome
CLC‐kb
In silico analysis
sanger sequencing
Online Access:https://doi.org/10.1002/ccr3.6698

Internet

https://doi.org/10.1002/ccr3.6698

Similar Items