A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Yusi WangXuguang HaoXueyuan JiaWei JiShuai YuanEstelle Judith Abla GnameyMin HuangLidan XuXuelong ZhangJing BaiWenjing Sun Songbin FuYong LiuJie Wu

Published in: Molecular genetics & genomic medicine (2022)

The novel frameshift variant identified in this study further confirms the relationship between non-syndromic PAP and GLI3 and extends the previously established mutational and phenotypic spectra of GLI3.

Keyphrases

density functional theory
molecular dynamics