Xingxing Qiao Liping Wu Jianjun Tang Rong Xiang Liangliang Fan Hao Huang Yaqin Chen
10.3389/fped.2022.1089194
Front Pediatr
2023 Jan 18;10:1089194.
sox9 campomelic dysplasia non-sense terminated mutation transactivation
CC BY
https://pubmed.ncbi.nlm.nih.gov/36741086/
Case Reports
PMC9890166
36741086
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
2023