MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati, F; Iannicelli, M; Travaglini, L; Mazzotta, A; Bertini, E; Boltshauser, E; D'Arrigo, S; Emma, F; Fazzi, Elisa Maria; Gallizzi, R; Gentile, M; Loncarevic, D; MEJASKI BOSNJAK, V; Pantaleoni, C; Rigoli, L; Salpietro, Cd; Signorini, S; Stringini, Gr; Verloes, A; Zabloka, D; Dallapiccola, B; Gleeson, Jg; Valente, Em; INTERNATIONAL JSRD STUDY, Group