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Diverse Phenotypic Expression of NPHP4 Mutations in Four Siblings
Nephronophthisis (NPHP) is an autosomal recessive disease characterized by renal tubular basement membrane disruption, interstitial fibrosis, and tubular cysts that progresses to end-stage kidney disease (ESKD). There are characteristic extrarenal manifestations. Mutations of more than thirteen gene...
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| Publicado no: | Turk J Pediatr |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5839637/ https://ncbi.nlm.nih.gov/pubmed/25818963 |
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