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Nephronophthisis
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy. Modern molecular genetics now allows...
Guardat en:
| Publicat a: | J Pediatr Genet |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Georg Thieme Verlag KG
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020989/ https://ncbi.nlm.nih.gov/pubmed/27625867 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14086 |
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