Article
A novel gene mutation of Runx2 in cleidocranial dysplasia.
Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban - 1 Oct 2017
Peng You-Jian, Chen Qiao-Yun, Fu Dong-Jie, Liu Zhi-Ming, Mao Tian-Tian, Li Jun, She Wen-Ting
Abstract excerpt
Haploinsufficiency of the runt-related transcription factor 2 (Runx2) gene is widely known to be responsible for cleidocranial dysplasia (CCD). To date, more than 190 mutations in Runx2 gene have been reported to be related to CCD. In this study, a novel mutation of Runx2 gene was observed in a female with CCD. Genomic DNA was extracted from peripheral venous blood of the proband and eleven members of her family....
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