Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Amanda C Smith; Alan J Mears; Ryan Bunker; Afsana Ahmed; Malcolm MacKenzie; Jeremy A Schwartzentruber; Chandree L Beaulieu; Emanuela Ferretti; FORGE Canada Consortium; Jacek Majewski; Dennis E Bulman; Fatma Cakmak Celik; Kym M Boycott; Gail E Graham

doi:10.1136/jmedgenet-2013-102218

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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

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Amanda C Smith Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Alan J Mears Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Ryan Bunker Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Afsana Ahmed Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Malcolm MacKenzie Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Jeremy A Schwartzentruber McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada PubMed articles Google scholar articles
Chandree L Beaulieu Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Emanuela Ferretti Division of Neonatology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada PubMed articles Google scholar articles
FORGE Canada Consortium
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Jacek Majewski Department of Human Genetics, McGill University, Montréal, Quebec, Canada PubMed articles Google scholar articles
Dennis E Bulman Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Fatma Cakmak Celik Division of Neonatology, Samsun Maternity and Children's Hospital, Samsun, Turkey PubMed articles Google scholar articles
Kym M Boycott Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Gail E Graham Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada PubMed articles Google scholar articles

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

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Citation

Smith AC, Mears AJ, Bunker R, et al

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Journal of Medical Genetics 2014;51:470-474.

Publication history

Received January 15, 2014
Revised March 14, 2014
Accepted March 17, 2014
First published April 4, 2014.

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April 27, 2016

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