Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Xiaojun RenNan YangNan WuXiming XuWeisheng ChenLing ZhangYingping LiRen-Qian DuShuangshuang DongSen ZhaoShuxia ChenLi-Ping JiangLianlei WangJianguo ZhangZhihong WuLi JinGuixing QiuJames R LupskiJiangang ShiFeng ZhangPengfei LiuPublished in: Journal of medical genetics (2019)
Our findings in humans and mice consistently support that an increased TBX6 dosage contributes to the risk of developing cervical CVMs.