LAUSR

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

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1 Published in 2019 at "BMC Pediatrics"

DOI: 10.1186/s12887-019-1498-3

Abstract: BackgroundGitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with… read more here.

Keywords: slc12a3; digenetic inheritance; inheritance slc12a3; slc12a3 clcnkb ... See more keywords