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pubmed:abstractText |
Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, and supernumerary teeth. The purposes of this study were to identify genetic causes of two CCD nuclear families and to report their clinical phenotypes.
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pubmed:affiliation |
Department of Cell and Developmental Biology, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul 110-768, Korea.
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