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Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure...
Shang D., Zhang X., Sun M., Wei Y. and Wen Y. 2013 Strong association of the SNP rs17822931 with wet earwax and bromhidrosis in a Chinese family. J. Genet. 92, xx–xx
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