D Doherty M A Parisi L S Finn M Gunay-Aygun M Al-Mateen D Bates C Clericuzio H Demir M Dorschner A J van Essen W A Gahl M Gentile N T Gorden A Hikida D Knutzen H Ozyurek I Phelps P Rosenthal A Verloes H Weigand P F Chance W B Dobyns I A Glass
10.1136/jmg.2009.067249
J Med Genet
2010 Jan;47(1):8-21.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/19574260/
Adaptor Proteins, Signal Transducing / genetics Ataxia / genetics Cerebellum / abnormalities Coloboma / genetics Intellectual Disability / genetics Liver Cirrhosis / genetics Membrane Proteins / genetics Proteins / genetics
Adaptor Proteins, Signal Transducing / genetics Ataxia / genetics Cerebellum / abnormalities Coloboma / genetics Intellectual Disability / genetics Liver Cirrhosis / genetics Membrane Proteins / genetics Proteins / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Cytoskeletal Proteins Female Humans Infant Liver Cirrhosis / pathology Male Mutation Syndrome Young Adult Adaptor Proteins, Signal Transducing CC2D2A protein, human Cytoskeletal Proteins Membrane Proteins Proteins RPGRIP1L protein, human TMEM67 protein, human
PMC3501959
19574260
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
2010