Article
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Nature medicine - 1 May 2024
Wang Yangong, Xu Yiran, Zhou Chongchen, Cheng Ye, Qiao Niu, Shang Qing, Xia Lei, Song Juan, Gao Chao, Qiao Yimeng, Zhang Xiaoli, Li Ming, Ma Caiyun, Fan Yangyi, Peng Xirui, Wu Silin, Lv Nan, Li Bingbing, Sun Yanyan, Zhang Bohao, Li Tongchuan, Li Hongwei, Zhang Jin, Su Yu, Li Qiaoli, Yuan Junying, Liu Lei, Moreno-De-Luca Andres, MacLennan Alastair H, Gecz Jozef, Zhu Dengna, Wang Xiaoyang, Zhu Changlian, Xing Qinghe
Abstract excerpt
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We...
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