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PDFGenotype-phenotype correlations
Short report
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
- Correspondence to Professor Robert W Taylor, Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; robert.taylor{at}ncl.ac.uk
Citation
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Publication history
- Received November 12, 2015
- Revised March 16, 2016
- Accepted March 27, 2016
- First published April 18, 2016.
Online issue publication
August 25, 2016
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