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

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

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...

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Bibliographic Details
Main Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genetics
Subjects:
Synpolydactyly
GLI3 gene
Gene mutation
Online Access:http://link.springer.com/article/10.1186/s12881-019-0889-5

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