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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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| Pubblicato in: | Case Rep Nephrol Dial |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
S. Karger AG
2016
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| Soggetti: | |
| Accesso online: | 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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