Article

A novel likely pathogenic CLCN5 variant in Dent’s disease

2023-05-11

Abstract excerpt

<h4>Background: </h4> 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 with the same insertion-deletion CLCN5 variant. The identification of these patients and positive familial segregation...

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Literature Corpus work: a9d29144-884f-5841-8f34-bfc54bb1e29c
DOI: 10.21203/rs.3.rs-2853649/v1

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