Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis
Lianlei Wang, Zhaoyang Liu, Sen Zhao, Kexin Xu, Valeria Aceves, Cheng Qiu, Hong Colleen Feng, Fangzhou Bian, Jingyu He, Christina J. Song, Benjamin Troutwine, Lian Liu, Samuel Ma, Yuchen Niu, Shengru Wang, , Jiashen Shao
The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.
Proceedings of the National Academy of Sciences · Jan 24, 2025Peer-reviewedGenetic & Genomic Medicine