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.

Afiliação

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 em En | MEDLINE | ID: mdl-37641036

Assuntos

Doença de Dent; Masculino; Humanos; Criança; Adulto; Doença de Dent/diagnóstico; Doença de Dent/genética; Hematúria; Cloretos; Família; Proteinúria

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Dent Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Humans / Male Idioma: En Revista: BMC Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Reino Unido

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