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

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). MET...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266609/
https://www.ncbi.nlm.nih.gov/pubmed/35546307
http://dx.doi.org/10.1002/mgg3.1968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266609/
https://www.ncbi.nlm.nih.gov/pubmed/35546307
http://dx.doi.org/10.1002/mgg3.1968

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