Robust Genetic Diagnosis of Split Hand–Foot Malformation by Exome Sequencing

• 作 者: Hengqing CUI Zhengsheng CHEN L
• 机 构: DepartmentofPlasticandReconstructiveSurgery,ShanghaiJiaotongUniversitySchoolofMedicine
• 出 处: 中国整形与重建外科(英文)
• 发表日期: 2020年1期
• 关键词: Hand-foot MALFORMATION Genetic diagnosis EXOME SEQUENCING
• 基金项目: We would like to thank the families for their participation in this study.We would also like to thank our funding sources:This study was supported by National Science Funding of China No.81772115 and

Purpose The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese patients with split hand–foot malformation(SHFM),a severe heterogeneous congenital anomaly characterized by hypodevelopment of the central