TY  - GEN
AU  - Alston,Charlotte L
AU  - Howard,Caoimhe
AU  - Oláhová,Monika
AU  - Hardy,Steven A
AU  - He,Langping
AU  - Murray,Philip G
AU  - O'Sullivan,Siobhan
AU  - Doherty,Gary
AU  - Shield,Julian P H
AU  - Hargreaves,Iain P
AU  - Monavari,Ardeshir A
AU  - Knerr,Ina
AU  - McCarthy,Peter
AU  - Morris,Andrew A M
AU  - Thorburn,David R
AU  - Prokisch,Holger
AU  - Clayton,Peter E
AU  - McFarland,Robert
AU  - Hughes,Joanne
AU  - Crushell,Ellen
AU  - Taylor,Robert W
TI  - A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
SN  - 1468-6244
PY  - 2017///1031
KW  - Child
KW  - Child, Preschool
KW  - Dwarfism
KW  - genetics
KW  - Electron Transport Complex I
KW  - Exome
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - methods
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mitochondria
KW  - Mitochondrial Diseases
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1136/jmedgenet-2015-103576
ER  -