Nephronophthisis type 11 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.
1. |
Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. |
2. |
Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). |
3. |
OMIM.ORG article Omim 613550 |
4. |
Orphanet article Orphanet ID 140976 |