Alston, Charlotte L <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2015-103576  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Dwarfism--genetics<br/>Electron Transport Complex I--genetics<br/>Exome--genetics<br/>Facies<br/>Female<br/>Genetic Association Studies--methods<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Mitochondria--genetics<br/>Mitochondrial Diseases--genetics<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype