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

• Main Authors: Qianqian Zou (Author), Zhigang Tian (Author), Jie Zheng (Author), Xiufang Zhi (Author), Xiaojie Du (Author), Jianbo Shu (Author), Chunquan Cai (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...