A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

BACKGROUND: Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure. BS type III, often known as classic...

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Detalles Bibliográficos
Autores principales: Zhu, Binlu, Jiang, Hong, Cao, Meiling, Zhao, Xueqi, Jiang, Hongkun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693093/
https://www.ncbi.nlm.nih.gov/pubmed/31409296
http://dx.doi.org/10.1186/s12881-019-0869-9

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