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