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