A novel likely pathogenic CLCN5 variant in Dent’s disease
Abstract Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting in proximal tubular dysfunction. We present three members of the same family and one unrelated paediatric patient wit...
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| Hauptverfasser: | , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2023-08-01
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| Schriftenreihe: | BMC Nephrology |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12882-023-03292-1 |
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