Carmelo D. Salpietro

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

E. Bertini, F. Brancati, E. Valente, 2009, Human mutation.

Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridization

H. Hoyme, A. Cherry, S. Aradhya, 2006, American journal of medical genetics. Part A.