Ontology highlight
ABSTRACT:
SUBMITTER: Lin WD
PROVIDER: S-EPMC3115309 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Genetics and molecular biology 20110401 2
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequenci ...[more]