Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1
Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a chi...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pediatrics |
| Assuntos: | |
| Acceso en liña: | https://www.frontiersin.org/articles/10.3389/fped.2025.1541411/full |
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