A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.
Hao GengDongdong TangChuan XuXiao-Jin HeTingting YePublished in: BioMed research international (2020)
A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in SHFM was thus identified, which may enlarge the spectrum of known TP63 variants and also provide new approaches for genetic counselling of families with SHFM.