Article
Molecular Genetics of Cleidocranial Dysplasia.
Fetal and pediatric pathology - 1 Oct 2021
Motaei Jamshid, Salmaninejad Arash, Jamali Ebrahim, Khorsand Imaneh, Ahmadvand Mohammad, Shabani Sasan, Karimi Farshid, Nazari Mohammad Sadegh, Ketabchi Golsa, Naqipour Fatemeh
Abstract excerpt
BACKGROUND: Cleidocranial dysplasia (CCD) is a genetic disorder with an autosomal dominant inheritance pattern. CCD characterized by abnormal clavicles, patent sutures and fontenelles, supernumerary teeth and short stature. Approximately 60-70% of CCD patients have mutations in the RUNX2 gene. The RUNX2 gene is an essential transcription factor for chondrocyte maturation, osteoblast differentiation and bone...
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