Joubert syndrome type 20 is an autosomal recessive disorder caused by mutations in the TMEM231 gene.
1. |
Chih B et al. (2011) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. |
2. |
Srour M et al. (2012) Mutations in TMEM231 cause Joubert syndrome in French Canadians. |
3. |
OMIM.ORG article Omim 614970 |