Joubert syndrome type 34 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.
1. |
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. |
2. |
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome. |
3. |
OMIM.ORG article Omim 614175 |