Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
Seeman
Tomás
T
Seemanová
Eva
E
Nuernberg
Gudrun
G
Nuernberg
Peter
P
Janssen
Sabine
S
Otto
Edgar A
EA
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
D008565:Membrane Proteins; C468846:TMEM67 protein, human