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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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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | 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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