Mutations in KIF21A are responsible for CFEOM1 worldwide.
Traboulsi
Elias I
EI
Engle
Elizabeth C
EC
D005152:Facial Muscles / Q000294:innervation* / Q000473:pathology; D005355:Fibrosis; D008040:Genetic Linkage; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009801:Oculomotor Muscles / Q000294:innervation* / Q000473:pathology; D009886:Ophthalmoplegia / Q000151:congenital / Q000235:genetics*
C119023:KIF21A protein, human; D009419:Nerve Tissue Proteins; D016547:Kinesins