Article
A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Jul 2022
Yu Qiuxia, Deng Qiong, Fu Fang, Li Ru, Zhang Wenwen, Wan Junhui, Yang Xin, Wang Dan, Li Fucheng, Wu Shaoqing, Li Jian, Li Dongzhi, Liao Can
Abstract excerpt
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects, and occurs in approximately 1/700 live births worldwide. The correlation between the ABCA4-ARHGAP29 region and NSCL/P was first identified by genome-wide association studies (GWAS), but few reports have examined NSCL/P caused by ARHGAP29 mutations in the Chinese population. METHODS: We performed...
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