Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Estelle Judith Abla Gnamey"'
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly
Autor:
Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract 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
Externí odkaz:
https://doaj.org/article/b1d743193a5d42ef850bb827e511c4dc
Autor:
Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
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-synd