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Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Srivastava, Shalabh, Molinari, Elisa, Raman, Shreya, Sayer, John A.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5770800/
https://ncbi.nlm.nih.gov/pubmed/29379777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00287
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