A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

BACKGROUND: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalosis, increased renin, and aldosterone lev...

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Detalles Bibliográficos
Autores principales: Zhao, Qianying, Xiang, Qinqin, Tan, Yu, Xiao, Xiao, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544217/
https://www.ncbi.nlm.nih.gov/pubmed/35913199
http://dx.doi.org/10.1002/mgg3.2027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544217/
https://www.ncbi.nlm.nih.gov/pubmed/35913199
http://dx.doi.org/10.1002/mgg3.2027

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