Article info
Developmental defects
Short report
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
- Correspondence to Dr Joseph G Gleeson, Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA; jogleeson{at}ucsd.edu Dr Lihadh Al-Gazali, Department of Pediatrics, United Arab Emirates University, School of Medicine and Health Sciences, 17666 Al Ain, United Arab Emirates.
Citation
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Publication history
- Received December 12, 2011
- Revised March 22, 2012
- Accepted March 23, 2012
- First published May 10, 2012.
Online issue publication
June 12, 2012
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© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.