A novel de novo splice-site variant in the RUNX2 gene has been identified as a cause of cleidocranial dysplasia. This discovery enhances the understanding of the genetic basis of this rare skeletal disorder.
cleidocranial dysplasia caused by a novel de novo runx2 splice site variant
Original title: “Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.”