A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
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H. Prokisch | P. Clayton | I. Knerr | P. Murray | D. Thorburn | E. Crushell | I. Hargreaves | J. Shield | A. A. Monavari | C. Alston | R. Mcfarland | Caoimhe Howard | A. Morris | M. Oláhová | J. Hughes | S. O'sullivan | G. Doherty | S. Hardy | Langping He | Peter McCarthy | Robert W. Taylor