Mutational burden and potential oligogenic model of TBX6‐mediated genes in congenital scoliosis

• Published in: Molecular genetics & genomic medicine Vol. 8; no. 10; pp. e1453 - n/a
• Main Authors: Yang, Yang, Zhao, Sen, Zhang, Yuanqiang, Wang, Shengru, Shao, Jiashen, Liu, Bowen, Li, Yaqi, Yan, Zihui, Niu, Yuchen, Li, Xiaoxin, Wang, Lianlei, Ye, Yongyu, Weng, Xisheng, Wu, Zhihong, Zhang, Jianguo, Wu, Nan
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.10.2020; John Wiley and Sons Inc; Wiley
• Subjects: Congenital defects; Congenital diseases; congenital scoliosis; Etiology; exome sequencing; Genes; Genomes; Mutation; mutational burden; Original; Polymorphism; Proteins; Scoliosis; Somitogenesis; TBX6‐mediated genes; Vertebrae; congenital scoliosis; exome sequencing; TBX6-mediated genes; mutational burden

Background Congenital scoliosis (CS) is a spinal deformity due to vertebral malformations. Although insufficiency of TBX6 dosage contributes to a substantial proportion of CS, the molecular etiology for the majority of CS remains largely unknown. TBX6‐mediated genes involved in the process of somito...