Nephronophthisis type 17 is an autosomal recessive disorder caused by mutations in the IFT172 gene.
1. |
Halbritter J et al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. |
2. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
3. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
4. |
OMIM.ORG article Omim 615630 |