The genotypic and phenotypic spectrum of PIGA deficiency.

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Published in Orphanet J Rare Dis on February 27, 2015

Authors

Maja Tarailo-Graovac1,2,3, Graham Sinclair4,5,6, Sylvia Stockler-Ipsiroglu7,8,9, Margot Van Allen10,11, Jacob Rozmus12,13, Casper Shyr14,15,16, Roberta Biancheri17, Tracey Oh18,19, Bryan Sayson20,21, Mirafe Lafek22,23, Colin J Ross24,25,26,27, Wendy P Robinson28,29, Wyeth W Wasserman30,31,32,33, Andrea Rossi34, Clara D M van Karnebeek35,36,37,38

Author Affiliations

1: Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. maja@cmmt.ubc.ca.
2: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. maja@cmmt.ubc.ca.
3: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. maja@cmmt.ubc.ca.
4: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. gsinclair@cw.bc.ca.
5: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. gsinclair@cw.bc.ca.
6: Biochemical Genetics Laboratory, Department of Pathology, BC Children's Hospital, University of British Columbia, Vancouver, Canada. gsinclair@cw.bc.ca.
7: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. sstockler@cw.bc.ca.
8: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. sstockler@cw.bc.ca.
9: Child & Family Research Institute, Vancouver, BC, Canada. sstockler@cw.bc.ca.
10: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. mvallen@cw.bc.ca.
11: Child & Family Research Institute, Vancouver, BC, Canada. mvallen@cw.bc.ca.
12: Division of Hematology, Oncology & BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. jrozmus@cw.bc.ca.
13: Child & Family Research Institute, Vancouver, BC, Canada. jrozmus@cw.bc.ca.
14: Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. casper@cmmt.ubc.ca.
15: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. casper@cmmt.ubc.ca.
16: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. casper@cmmt.ubc.ca.
17: Department of Paediatric Neurology, Children's Hospital Oxford, John Radcliffe Hospital, Oxford, UK. roberta@biancheri.com.
18: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. toh@cw.bc.ca.
19: Child & Family Research Institute, Vancouver, BC, Canada. toh@cw.bc.ca.
20: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. Bryan.Sayson@cw.bc.ca.
21: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. Bryan.Sayson@cw.bc.ca.
22: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. MLafek@cw.bc.ca.
23: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. MLafek@cw.bc.ca.
24: Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. colinross1@gmail.com.
25: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. colinross1@gmail.com.
26: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. colinross1@gmail.com.
27: Child & Family Research Institute, Vancouver, BC, Canada. colinross1@gmail.com.
28: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wrobinson@cfri.ca.
29: Child & Family Research Institute, Vancouver, BC, Canada. wrobinson@cfri.ca.
30: Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. wyeth@cmmt.ubc.ca.
31: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wyeth@cmmt.ubc.ca.
32: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. wyeth@cmmt.ubc.ca.
33: Child & Family Research Institute, Vancouver, BC, Canada. wyeth@cmmt.ubc.ca.
34: Department of Neuroradiology, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, I-16147, Genoa, Italy. andrearossi@ospedale-gaslini.ge.it.
35: Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. cvankarnebeek@cw.bc.ca.
36: Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada. cvankarnebeek@cw.bc.ca.
37: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada. cvankarnebeek@cw.bc.ca.
38: Child & Family Research Institute, Vancouver, BC, Canada. cvankarnebeek@cw.bc.ca.

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