A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston, Charlotte L
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. [electronic resource] - Journal of medical genetics 09 2016 - 634-41 p. digital
Publication Type: Journal Article
1468-6244
10.1136/jmedgenet-2015-103576 doi
Child
Child, Preschool
Dwarfism--genetics
Electron Transport Complex I--genetics
Exome--genetics
Facies
Female
Genetic Association Studies--methods
Homozygote
Humans
Infant
Male
Mitochondria--genetics
Mitochondrial Diseases--genetics
Mutation--genetics
Pedigree
Phenotype
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. [electronic resource] - Journal of medical genetics 09 2016 - 634-41 p. digital
Publication Type: Journal Article
1468-6244
10.1136/jmedgenet-2015-103576 doi
Child
Child, Preschool
Dwarfism--genetics
Electron Transport Complex I--genetics
Exome--genetics
Facies
Female
Genetic Association Studies--methods
Homozygote
Humans
Infant
Male
Mitochondria--genetics
Mitochondrial Diseases--genetics
Mutation--genetics
Pedigree
Phenotype