Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap.
| Main Authors: | , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Springer International Publishing
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977018/ |