A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

• Principais autores: Qianqian Zou (Autor), Zhigang Tian (Autor), Jie Zheng (Autor), Xiufang Zhi (Autor), Xiaojie Du (Autor), Jianbo Shu (Autor), Chunquan Cai (Autor)
• Formato: Livro
• Publicado em: BMC, 2019-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. Case presentation The patient was a 2-year-old boy who underwent surgery in...