Article
A novel TRPC6mutation in a family with podocytopathy and clinical variability
10 May 2013
Abstract excerpt
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 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after...
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