Figure 3From: Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtypeMEOX1 mutation analysis. (A) G → A nucleotide change (red box) in MEOX1 is identified by exome sequencing. (B) This nucleotide change causes the formation of a stop codon and a truncated protein. (C) The mutation is located at the end of the N terminal domain (N: N terminal domain, MID: middle domain, HD: home domain, C: C terminal domain; black vertical line shows mutation location).Back to article page