Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption
解读中国特雷彻·柯林斯综合征患者的 TCOF1 突变:深入了解发病机制和转录破坏
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-024-03508-z
Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang