A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing
Abstract Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane. Alport syndrome is a classic example caused by variants in the genes COL4A3, COL4A4, or COL4A5. Less common example in...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMC
2025-11-01
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| Collection: | BMC Nephrology |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1186/s12882-025-04606-1 |
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