A novel TRPC6 mutation in a family with podocytopathy and clinical variability

BACKGROUND: Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. CASE PRESENTATION: A 35 y...

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Detalles Bibliográficos
Autores principales: Mottl, Amy K, Lu, Mei, Fine, Catherine A, Weck, Karen E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662586/
https://www.ncbi.nlm.nih.gov/pubmed/23663351
http://dx.doi.org/10.1186/1471-2369-14-104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662586/
https://www.ncbi.nlm.nih.gov/pubmed/23663351
http://dx.doi.org/10.1186/1471-2369-14-104

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