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

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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Bibliographic Details
Main Authors: Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-01-01
Series:Frontiers in Pediatrics
Subjects:
ciliopathy
molecular genetics
nephronophthisis
cilia
centrosome
DNA damage
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00287/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2017.00287/full

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