Joubert syndrome 4 is an autosomal recessive disorder caused by mutations of the NPHP1 gene.
1. |
Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. |
2. |
Parisi MA et al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. |
3. |
OMIM.ORG article Omim 609583 |