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

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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Bibliographic Details
Main Authors: Iwafuchi, Yoichi, Morioka, Tetsuo, Morita, Takashi, Yanagihara, Toshio, Oyama, Yuko, Morisada, Naoya, Iijima, Kazumoto, Narita, Ichiei
Format: Online
Language:English
Published: S. Karger AG 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870939/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870939/

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