Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.
Yang YangSen ZhaoYuanqiang ZhangShengru WangJiashen ShaoBowen LiuYaqi LiZihui YanYuchen NiuXiaoxin LiLianlei WangYongyu YeXisheng WengZhihong Wunull nullJianguo ZhangNan WuPublished in: Molecular genetics & genomic medicine (2020)
Our study characterized the mutational spectrum of TBX6-mediated genes, prioritized core candidate genes/variants, and provided insight into a potential oligogenic disease-causing mode in CS.