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Cleidocranial dysplasia (CCD) is an autosomal dominant inherited skeletal disease with high penetrance and variable expressivity. Although many mutations in RUNX2/CBFA1, an osteoblast-specific transcription factor, have been identified as causes of CCD, it is unclear whether these mutation genotypes relate to various symptoms. Heterogeneous mutations of RUNX2/CBFA1 result in disease characterized...
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