Article
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Molecular genetics & genomic medicine - 1 Jul 2022
Wang Yusi, Hao Xuguang, Jia Xueyuan, Ji Wei, Yuan Shuai, Gnamey Estelle Judith Abla, Huang Min, Xu Lidan, Zhang Xuelong, Bai Jing, Sun Wenjing, Fu Songbin, Liu Yong, Wu Jie
Abstract excerpt
BACKGROUND: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non-syndromic postaxial polydactyly (PAP). METHODS: After recruiting a three-generation family with PAP, whole-exome sequencing was performed to identify the...
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