Nephronophthisis-like nephropathy 1 is an autosomal recessive disorder caused by mutations of the XPNPEP3 gene.
1. |
O'Toole JF et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. |
2. |
OMIM.ORG article Omim 613159 |