A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

Affiliations

• ¹ Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China.
• ² 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.
• ³ The State Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China.
• ⁴ Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Chongqing Medical University, Chongqing 401147, China; Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Chongqing 401147, China.
• ⁵ Forest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA.
• ⁶ MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
• ⁷ Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China. Electronic address: cranio@vip.163.com.
• ⁸ 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; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China. Electronic address: wangsijia@picb.ac.cn.