Article
Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
Journal of applied oral science : revista FOB - 1 Jan 2022
Thaweesapphithak Sermporn, Saengsin Jirawat, Kamolvisit Wuttichart, Theerapanon Thanakorn, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
OBJECTIVES: Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. To characterize detailed phenotypes and...
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