Article
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
PloS one - 1 Jan 2017
Zhang Xianli, Liu Yang, Wang Xiaozhe, Sun Xiangyu, Zhang Chenying, Zheng Shuguo
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD....
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