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Short report
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Authors

  1. 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
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Citation

Alston CL, Howard C, Oláhová M, et al
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Publication history

  • Received 12 November 2015
  • Revised 16 March 2016
  • Accepted 27 March 2016
  • Published in print 1 September 2016.
  • Published online 22 August 2016.
  • Published first 18 April 2016.

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