Three GLI2 mutations combined potentially underlie non ‐syndromic cleft lip with or without cleft palate in a Chinese pedigree

ConclusionOur results further demonstrate thatGLI2 variants play a role in the pathogenesis of NSCL/P, and the three rare missense mutations combined are probably the potential disease ‐causing variants in this family.

Source: Molecular Genetics & Genomic Medicine - August 5, 2019 Category: Genetics & Stem Cells Authors: Peiqi Meng, Huaxiang Zhao, Wenbin Huang, Yunfan Zhang, Wenjie Zhong, Mengqi Zhang, Peizeng Jia, Zhibo Zhou, Gulibaha Maimaitili, Feng Chen, Jieni Zhang, Jiuxiang Lin Tags: ORIGINAL ARTICLE Source Type: research