Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2

A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons sh...

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Publicado en:Case Rep Nephrol Dial
Autores principales: Iwafuchi, Yoichi, Morioka, Tetsuo, Morita, Takashi, Yanagihara, Toshio, Oyama, Yuko, Morisada, Naoya, Iijima, Kazumoto, Narita, Ichiei
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2016
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Published online: April, 2016
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4870939/
https://ncbi.nlm.nih.gov/pubmed/27226968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445679
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