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Title: NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
Authors: Mehawej, Cybel
Chouery, Eliane
Ghabril, Ramy
Tokajian, Sima
Megarbane, Andre
Affiliations: Faculty of Medicine 
Keywords: Autosomal dominant
Genetic variant
Issue Date: 2023-01-10
Part of: Nephron
Volume: 147
Issue: 2-3
Start page: 229
End page: 233
Nephronophthisis (NPHP) is a group of autosomal recessive renal diseases characterized by a reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, and cystic kidney disease. It represents the most common genetic cause of childhood renal failure. To date, around 20 different genes, encoding primary cilia proteins, have been linked to NPHP. These contribute to one-third of cases with NPHP while the majority of patients remain molecularly undiagnosed.
ISSN: 16608151
DOI: 10.1159/000526841
Type: Journal Article
Appears in Collections:Faculty of Medicine

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