A novel likely pathogenic CLCN5 variant in Dent’s disease

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 with the sa...

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Detalles Bibliográficos
Autores principales: Hayward, S, Norton, J, Bownass, L, Platt, C, Campbell, H, Watson, E, Forrester, N, Smithson, S, Menon, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463507/
https://www.ncbi.nlm.nih.gov/pubmed/37641036
http://dx.doi.org/10.1186/s12882-023-03292-1

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