Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
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DOI: 10.12998/wjcc.v8.i18.4252
Abstract: 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… read more here.
Keywords: rare homozygous; homozygous mutation; slc12a3 gene; gene ... See more keywords