Ontology highlight
ABSTRACT:
SUBMITTER: Srivastava S
PROVIDER: S-EPMC5770800 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Srivastava Shalabh S Molinari Elisa E Raman Shreya S Sayer John A JA
Frontiers in pediatrics 20180105
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 all related to cilia, centrosome, or mitotic spindle function. In around 15% of cases, there are additional features of a ciliopathy syndrome, including retinal defects, liver fibrosis, skeletal abno ...[more]