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

International JSRD Study Group

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)

Fingerprint

Dive into the research topics of 'MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement'. Together they form a unique fingerprint.

Medicine & Life Sciences