Case Report
Copyright ©The Author(s) 2023.
World J Clin Cases. Jan 26, 2023; 11(3): 700-708
Published online Jan 26, 2023. doi: 10.12998/wjcc.v11.i3.700
Figure 3
Figure 3 Genetic analysis identified mutations in chloride voltage-gated channel 7 and T-cell immune regulator 1 in the osteopetrosis family. A: The proband (II:4) and her daughter (III:1) carried T-cell immune regulator 1-c.714-20 (IVS7) G>A; B: The proband (II:4) and her daughter (III:1) carried CLCN7-c.857 (exon10) G>A/R286Q mutations. II:1 and II:2 did not carry any of the two mutations. CLCN7: Chloride voltage-gated channel 7; TCIRG1: T-cell immune regulator 1; WT: Wild type.