Article Text

Download PDFPDF
Short report
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
  1. Amanda C Smith1,
  2. Alan J Mears1,
  3. Ryan Bunker1,
  4. Afsana Ahmed1,
  5. Malcolm MacKenzie1,
  6. Jeremy A Schwartzentruber2,
  7. Chandree L Beaulieu1,
  8. Emanuela Ferretti3,
  9. FORGE Canada Consortium,
  10. Jacek Majewski4,
  11. Dennis E Bulman1,
  12. Fatma Cakmak Celik5,
  13. Kym M Boycott1,6,
  14. Gail E Graham6
  1. 1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
  2. 2McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada
  3. 3Division of Neonatology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  4. 4Department of Human Genetics, McGill University, Montréal, Quebec, Canada
  5. 5Division of Neonatology, Samsun Maternity and Children's Hospital, Samsun, Turkey
  6. 6Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  1. Correspondence to Dr Kym Boycott, Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1; kboycott{at}cheo.on.ca

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.