Article

Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E et al and Taylor, RW (2016) A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics (JMG), 53 (9). pp. 634-641. ISSN 0022-2593