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Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the corn...
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| Veröffentlicht in: | Clin J Am Soc Nephrol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society of Nephrology
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4386265/ https://ncbi.nlm.nih.gov/pubmed/25649157 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.10581014 |
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