A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease

Affiliations

• ¹ Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
• ² Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.
• ³ Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
• ⁴ Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia.
• ⁵ Department of Neurology, Wellington Hospital, Wellington, 6242, New Zealand.
• ⁶ Capital and Coast District Health Board, Wellington Regional Hospital, Wellington, 6021, New Zealand.
• ⁷ Genetic Health Service New Zealand, Wellington Hospital, Wellington, 6242, New Zealand.
• ⁸ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, 3052, Australia.
• ⁹ Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia. paul.lockhart@mcri.edu.au.
• ¹⁰ Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia. paul.lockhart@mcri.edu.au.