Brancati, Francesco <br/><br/>
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.  [electronic resource] 

 -  Human mutation  Feb 2009 
 - E432-42 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20924  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Humans<br/>Liver--pathology<br/>Magnetic Resonance Imaging<br/>Membrane Proteins--chemistry<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Syndrome