A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra.
作者信息
Wu Yingzhi, Peng Meifang, Chen Jieyi, Suo Jinlong, Zou Sihai, Xu Yanqing, Wilkie Andrew O M, Zou Weiguo, Mu Xiongzheng, Wang Sijia
机构信息
Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China.
State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai 200011, China; CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
出版信息
J Genet Genomics. 2021 Feb 20;48(2):167-171. doi: 10.1016/j.jgg.2020.11.004. Epub 2020 Dec 30.
PMID:33547006
Abstract
摘要
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