A novel likely pathogenic CLCN5 variant in Dent's disease.

Hayward, S; Norton, J; Bownass, L; Platt, C; Campbell, H; Watson, E; Forrester, N; Smithson, S; Menon, A

Hayward, S; Norton, J; Bownass, L; Platt, C; Campbell, H; Watson, E; Forrester, N; Smithson, S; Menon, A.

Afiliación

Hayward S; Bristol Medical School, Translational Health Sciences, University of Bristol, Bristol, UK.
Norton J; Richard Bright Renal Service, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
Bownass L; South West Genetic Laboratory Hub, North Bristol NHS Trust, Bristol, UK.
Platt C; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
Watson E; Richard Bright Renal Service, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
Forrester N; South West Genetic Laboratory Hub, North Bristol NHS Trust, Bristol, UK.
Smithson S; South West Genetic Laboratory Hub, North Bristol NHS Trust, Bristol, UK.
Menon A; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.

BMC Nephrol ; 24(1): 256, 2023 08 28.

Article en En | MEDLINE | ID: mdl-37641036

Asunto(s)

Enfermedad de Dent; Masculino; Humanos; Niño; Adulto; Enfermedad de Dent/diagnóstico; Enfermedad de Dent/genética; Hematuria; Cloruros; Familia; Proteinuria

Palabras clave

CLCN5; Dent's disease; Genetics; Nephrocalcinosis; Proteinuria

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Dent Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Humans / Male Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido

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