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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3662586/ https://ncbi.nlm.nih.gov/pubmed/23663351 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-104 |
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