A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Article
in En
| MEDLINE
| ID: mdl-27091925
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mitochondrial Diseases
/
Electron Transport Complex I
/
Dwarfism
/
Mitochondria
/
Mutation
Type of study:
Etiology_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Med Genet
Year:
2016
Document type:
Article
Affiliation country:
Country of publication: