Joubert syndrome 17
Joubert syndrome type 17 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.[^]
Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.[^]
Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.[^]
Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.[^]
OMIM.ORG articleOmim 614615 [^]