Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.
University of Alberta, Edmonton, Alta.
Stephanie C
SC
Chan
University of Alberta, Edmonton, Alta.
Jaspreet
J
Rayat
University of Alberta, Edmonton, Alta.
Yves
Y
Sauvé
University of Alberta, Edmonton, Alta. Electronic address: macdonal@ualberta.ca.
Ian M
IM
MacDonald
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001072:Apraxias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D065814:Cerebellar Vermis / Q000002:abnormalities*; D055952:Cogan Syndrome / Q000175:diagnosis* / Q000235:genetics; D003598:Cytoskeletal Proteins; D003937:Diagnosis, Differential; D004596:Electroretinography; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D035781:Siblings
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human