Article
A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree.
Mutagenesis - 17 Sept 2018
Zhao Huaxiang, Zhang Mengqi, Zhong Wenjie, Zhang Jieni, Huang Wenbin, Zhang Yunfan, Li Weiran, Jia Peizeng, Zhang Taowen, Liu Zhonghao, Lin Jiuxiang, Chen Feng
Abstract excerpt
Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common congenital craniofacial malformation, and its harmful influence on affected individuals is apparent. Despite many studies, the causative genes and their mechanisms are not completely clear. We recruited a Han Chinese NSCLP family and explored the causative variant in this pedigree. We performed whole-exome sequencing on two patients....
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