Article
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.
Genome research - 2 May 2025
Zhu Hao, Zhang Jiao, Rao Soumya, Durbin Matthew D, Li Ying, Lang Ruirui, Liu Jiqiang, Xiao Baichuan, Shan Hailin, Meng Ziqiu, Wang Jinmo, Tang Xiaokai, Shi Zhenni, Cox Liza L, Zhao Shouqin, Ware Stephanie M, Tan Tiong Y, de Silva Michelle, Gallacher Lyndon, Liu Ting, Mi Jie, Zeng Changqing, Zheng Hou-Feng, Zhang Qingguo, Antonarakis Stylianos E, Cox Timothy C, Zhang Yong-Biao
Abstract excerpt
Pathogenic coding variants have been identified in thousands of genes, yet the mechanisms underlying the incomplete penetrance in individuals carrying these variants are poorly understood. In this study, in a cohort of 2009 craniofacial microsomia (CFM) patients of Chinese ancestry and 2625 Han Chinese controls, we identified multiple predicted pathogenic coding variants in SHROOM3 in both CFM patients and...
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