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Nephronophthisis

Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and r...

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Autori principali: Simms, Roslyn J, Eley, Lorraine, Sayer, John A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986221/
https://ncbi.nlm.nih.gov/pubmed/19066617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.238
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