Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis

Proceedings of the National Academy of Sciences, Volume 122, Issue 4, January 2025. <br/>SignificanceOur work identified a pathologic variant ofSOX9within the transactivation middle (TAM) domain and demonstrated that this variant is associated with reduced SOX9 protein stability within specific spine tissues. Our finding suggests that ...