Figure 4
From: Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtype
KFS family pedigree. (A) Affected sibs are identified by filled symbols. Diagonal lines indicate deceased family members. Circles represent female and squares represent male family members. The affected genotype is TT, healthy individuals are CT and CC genotypes. “L” represents patients used in whole genome linkage analysis; “E” represents those used in whole-exome sequencing. (B) Sanger sequencing confirms the altered base in family members (red box).