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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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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Zhu, Binlu, Jiang, Hong, Cao, Meiling, Zhao, Xueqi, Jiang, Hongkun
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6693093/
https://ncbi.nlm.nih.gov/pubmed/31409296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0869-9
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