A novel likely pathogenic CLCN5 variant in Dent’s disease

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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Bibliographic Details
Main Authors: S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Nephrology
Subjects:
Dent’s disease
Genetics
Nephrocalcinosis
Proteinuria
CLCN5
Online Access:https://doi.org/10.1186/s12882-023-03292-1

Internet

https://doi.org/10.1186/s12882-023-03292-1

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