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Open Accesshttps://doi.org/10.1136/jmg.2009.066613
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Jun 8, 2009 |
 Citations: 132 |
Affiliation: University of Michigan–Ann Arbor, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Inserm, Délégation Paris 5, University Hospital of Bern, University of Cologne, The University of Texas Southwestern Medical Center, Michigan Medicine, Semmelweis UniversityBackground:Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been...
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