TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice - Yang, Nan; Wu, Nan; Zhang, Ling; Zhao, Yanxue; Liu, Jiaqi; Liang, Xiangyu; Ren, Xiaojun; Li, Weiyu; Chen, Weisheng; Dong, Shuangshuang; Zhao, Sen; Lin, Jiachen; et al. (Human molecular genetics, 2019)
Keywords: Adolescent; Alleles; Animals; Child; Child, Preschool; Congenital Abnormalities - diagnostic imaging; Congenital Abnormalities - genetics; Congenital Abnormalities - physiopathology; CRISPR-Cas Systems - genetics; Disease Models, Animal; Female; Haploinsufficiency; Humans; Infant; Male; Mice; Mutation; Phenotype; Scoliosis - diagnostic imaging; Scoliosis - genetics; Scoliosis - physiopathology; Spine - abnormalities; Spine - diagnostic imaging; Spine - physiopathology; T-Box Domain Proteins - genetics