Article
Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Annals of clinical and laboratory science - 1 Jan 2008
Xuan Dongying, Li Shi, Zhang Xiong, Hu Fei, Lin Lixin, Wang Chunxian, Zhang Jincai
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disease caused by heterozygous mutations in an osteoblast-specific transcription factor, RUNX2. Mutational analyses of RUNX2 were done on 4 unrelated Chinese patients with CCD. One nonsense and 3 missense mutations were detected, including one novel mutation, a heterozygous G to C transition mutation at nucleotide 475 in exon 2, which...
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