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, ENZA MARIA;International JSRD Study Group

2009-01-01