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

Authors

Hussein Daoud, Université de Montréal, Montreal, QC, Canada
Martine Tétreault, Université de Montréal, Montreal, QC, Canada
William Gibson, University of British Columbia, Vancouver, Canada
Kether Guerrero, McGill University Heath Center, Montreal, QC, Canada
Ana Cohen, University of British Columbia, Vancouver, Canada
Janina Gburek-Augustat, University Childrens Hospital Tübingen, Germany
Matthis Synofzik, University Childrens Hospital Tübingen, Germany
Bernard Brais, McGill University, Montreal, QC, Canada
Cathy A. Stevens, University of Tennessee
Rocio Sanchez-Carpintero, University Clinic of Navarra, Pamplona, Spain
Cyril Goizet, Université Bordeaux Segalen, Bordeaux, France
Sakkubai Naidu, Kennedy Krieger Institute, Baltimore, MD
Adeline Vanderver, George Washington UniversityFollow
Genevieve Bernard, McGill University Heath Center, Montreal, QC, Canada

Document Type

Journal Article

Publication Date

2013

Journal

Journal of Medical Genetics

Volume

Volume 50, Issue 3

Inclusive Pages

194-197

Keywords

Hereditary Central Nervous System Demyelinating Diseases--genetics; Hypogonadism--genetics; Mutation; RNA Polymerase III--genetics; Tooth Abnormalities--genetics

APA Citation

Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C.A., Sanchez-Carpintero, R., Goizet, C., Naidu, S., Vanderver, A., Bernard, G. (2013). 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, 50(3), 194-197.

Peer Reviewed

1