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...
Tallennettuna:
| Päätekijät: | , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMC
2025-11-01
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| Sarja: | BMC Nephrology |
| Aiheet: | |
| Linkit: | https://doi.org/10.1186/s12882-025-04606-1 |
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