Article
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Birth defects research. Part A, Clinical and molecular teratology - 1 Feb 2006
Cunningham Michael L, Seto Marianne L, Hing Anne V, Bull Marilyn J, Hopkin Robert J, Leppig Kathleen A
Abstract excerpt
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. CCD is caused by mutations in the transcription factor RUNX2, which is known to function as a major regulator of bone differentiation. Despite the characterization of 67 unique mutations in 97...
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