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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870939/ https://www.ncbi.nlm.nih.gov/pubmed/27226968 http://dx.doi.org/10.1159/000445679 |