TMEM67 and Joubert syndrome with hepatic defect: In this study, we have focussed on TMEM67 (also called MKS3), which is associated with several ciliopathies including Meckel Syndrome (27–30) (OMIM #607361), COACH Syndrome (31) (OMIM #216360) and Joubert Syndrome (7,32–35) (OMIM #610688).