MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

Agricultural and Biological Sciences

• Mutation 100%
• Phenotype 33%
• CEP290 33%
• Protocerebrum 33%

Medicine and Dentistry

• Major Gene 33%
• Nephronophthisis 20%
• Aplasia 20%