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Nephronophthisis: A Genetically Diverse Ciliopathy

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating...

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Detalles Bibliográficos
Autores principales: Simms, Roslyn J., Hynes, Ann Marie, Eley, Lorraine, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108105/
https://www.ncbi.nlm.nih.gov/pubmed/21660307
http://dx.doi.org/10.4061/2011/527137

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