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  • Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

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Original article
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

Authors

  • Sali M K Farhan Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • Jian Wang Robarts Research Institute, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • John F Robinson Robarts Research Institute, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • Asuri N Prasad Division of Clinical Neurological Sciences, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • C Anthony Rupar Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada Medical Genetics Program, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • Victoria M Siu Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada Medical Genetics Program, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • FORGE Canada Consortium
    Google scholar articles
  • Robert A Hegele Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Robert A Hegele, Blackburn Cardiovascular Genetics Laboratory, 4288A-1151 Richmond St North, Robarts Research Institute, Western University, London, Ontario, Canada N6A 5B7; hegele{at}robarts.ca
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Citation

Farhan SMK, Wang J, Robinson JF, et al
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
Journal of Medical Genetics 2015;52:666-675.

Publication history

  • Received May 22, 2015
  • Accepted July 6, 2015
  • First published August 5, 2015.
Online issue publication 
April 27, 2016

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