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Mutations of the RUNX2 gene result in dominantly inherited cleidocranial dysplasia (CCD). RUNX2 encodes for an osteoblast-specific transcription factor, which recognizes specific DNA sequences by the runt domain. DNA binding is stabilized by the interaction with the protein CBFβ, which induces structural modifications of the runt domain. A novel 574G>A RUNX2 missense mutation has been found in...
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