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...
Na minha lista:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2025-11-01
|
| coleção: | BMC Nephrology |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12882-025-04606-1 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|