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

@inproceedings{Srivastava2017ManyGD,
  title={Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders},
  author={Shalabh Srivastava and Elisa Molinari and Shreya Raman and John A. Sayer},
  booktitle={Front. Pediatr.},
  year={2017}
}
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… CONTINUE READING
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