A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation

Figure 1

Variant of TP63 identified in a Chinese family with SHFM (NM_3722.4:c.948G>A). The proband (II-2) and his son (III-1) were heterozygous for this variant. The red arrow indicates variant information in Sanger sequencing. Abbreviations: SHFM = split-hand/foot malformation; WT = wild type; M = TP63 variant.