Article
Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.
Human molecular genetics - 31 May 2021
Xu Xiaopeng, Wang Bingqing, Jiang Zhuoyuan, Chen Qi, Mao Ke, Shi Xiaofeng, Yan Chun, Hu Jintian, Zha Yan, Ma Chao, Zhang Jiao, Guo Rui, Wang Liguo, Zhao Shouqin, Liu Huisheng, Zhang Qingguo, Zhang Yong-Biao
Abstract excerpt
Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it's genetic risk factors and environmental threats are poorly investigated, as well as their interaction, making the diagnosis and prenatal screening of CFM impossible. We perform a comprehensive association study on the largest CFM cohort of 6074 samples. We identify 15 significant (P < 5 × 10-8)...
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