title: Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
authors.forename: Tomás
authors.initials: T
authors.lastname: Seeman
authors.forename: Eva
authors.initials: E
authors.lastname: Seemanová
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nuernberg
authors.forename: Peter
authors.initials: P
authors.lastname: Nuernberg
authors.forename: Sabine
authors.initials: S
authors.lastname: Janssen
authors.forename: Edgar A
authors.initials: EA
authors.lastname: Otto
mesh_terms: D016022:Case-Control Studies; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008107:Liver Diseases / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D007690:Polycystic Kidney Diseases / Q000235:genetics / Q000503:physiopathology*; D014430:Twins, Monozygotic
chemical_list: D008565:Membrane Proteins; C468846:TMEM67 protein, human