A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype - Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; et al. (Journal of medical genetics, 2016)
Keywords: Child; Child, Preschool; Dwarfism - genetics; Electron Transport Complex I - genetics; Exome - genetics; Facies; Female; Genetic Association Studies - methods; Genotype-Phenotype Correlations; Homozygote; Humans; Infant; Male; Mitochondria - genetics; Mitochondrial Diseases - genetics; Mutation - genetics; Pedigree; Phenotype; complex I deficiency; prognosis; dysmorphic features; mitochondrial disease