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Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
BACKGROUND: Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting in disordered function of the...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Baishideng Publishing Group Inc
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520782/ https://www.ncbi.nlm.nih.gov/pubmed/33024786 http://dx.doi.org/10.12998/wjcc.v8.i18.4252 |