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  • Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

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Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Authors

  • Hussein Daoud Center of Excellence in Neuroscience of Université de Montréal, CRCHUM, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Martine Tétreault Center of Excellence in Neuroscience of Université de Montréal, CRCHUM, Montreal, Quebec, CanadaNeurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • William Gibson Department of Medical Genetics Child and Family Research Institute, University of British Columbia, Vancouver, Canada PubMed articlesGoogle scholar articles
  • Kether Guerrero Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Heath Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Ana Cohen Department of Medical Genetics Child and Family Research Institute, University of British Columbia, Vancouver, Canada PubMed articlesGoogle scholar articles
  • Janina Gburek-Augustat Department of Neuropaediatrics, Developmental Neurology and Social Paediatrics, University Childreńs Hospital Tübingen, Germany PubMed articlesGoogle scholar articles
  • Matthis Synofzik Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, GermanyGerman Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany PubMed articlesGoogle scholar articles
  • Bernard Brais Neurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Cathy A Stevens Department of Pediatrics, University of Tennessee College of Medecine, Chattonooga, Tennessee, USA PubMed articlesGoogle scholar articles
  • Rocio Sanchez-Carpintero Pediatric Neurology Unit, Department of Pediatrics, University Clinic of Navarra, Pamplona, Spain PubMed articlesGoogle scholar articles
  • Cyril Goizet Department of Medical Genetics, Hospital Pellegrin, CHU Bordeaux and Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), Université Bordeaux Segalen, Bordeaux, France PubMed articlesGoogle scholar articles
  • Sakkubai Naidu Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Adeline Vanderver Department of Neurology, Children's National Medical Center, Washington D.C., USA PubMed articlesGoogle scholar articles
  • Geneviève Bernard Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Heath Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Geneviève Bernard, Montreal Children's Hospital, Room A-506, 2300 Tupper, Montreal, Quebec H3H 1P3, Canada; genevieve.bernard{at}mcgill.ca
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Citation

Daoud H, Tétreault M, Gibson W, et al
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
Journal of Medical Genetics 2013;50:194-197.

Publication history

  • Received October 13, 2012
  • Revised November 23, 2012
  • Accepted December 7, 2012
  • First published January 25, 2013.
Online issue publication 
April 27, 2016

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