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A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

Authors

  • Alison M Elliott Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Winnipeg Regional Health Authority Program of Genetics and Metabolism, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Louise R Simard Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Gail Coghlan Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Albert E Chudley Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Winnipeg Regional Health Authority Program of Genetics and Metabolism, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Bernard N Chodirker Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Winnipeg Regional Health Authority Program of Genetics and Metabolism, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Cheryl R Greenberg Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Winnipeg Regional Health Authority Program of Genetics and Metabolism, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Tanya Burch Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Valentina Ly Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Grant M Hatch Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Teresa Zelinski Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Alison M Elliott, Departments of Pediatrics and Child Health; Biochemistry and Medical Genetics, University of Manitoba, Faculty of Medicine, FE229 CSB, 820 Sherbrook Street, Winnipeg, MB, Canada R3A 1R9; aelliott{at}hsc.mb.ca; and Dr Louise R Simard, Departments of Pediatrics and Child Health; Biochemistry and Medical Genetics, University of Manitoba, Faculty of Medicine, 312 Basic Medical Sciences Building, 745 Bannatyne Avenue, Winnipeg, MB, Canada R3E 0J9; Louise.Simard{at}med.umanitoba.ca
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Citation

Elliott AM, Simard LR, Coghlan G, et al
A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
Journal of Medical Genetics 2013;50:819-822.

Publication history

  • Received April 4, 2013
  • Revised August 3, 2013
  • Accepted August 28, 2013
  • First published September 24, 2013.
Online issue publication 
November 05, 2013

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