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

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 was detecte...

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Detalles Bibliográficos
Autores principales: Nojehdeh, Somayeh Takrim, Mojbafan, Marzieh, Hooman, Nakysa, Hoseini, Rozita, Otukesh, Hasan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9734084/
https://www.ncbi.nlm.nih.gov/pubmed/36514463
http://dx.doi.org/10.1002/ccr3.6698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9734084/
https://www.ncbi.nlm.nih.gov/pubmed/36514463
http://dx.doi.org/10.1002/ccr3.6698

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