Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

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 funct...

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Veröffentlicht in:	Birth defects research. A Clinical and molecular teratology 2006-02, Vol.76 (2), p.78-85
Hauptverfasser:	Cunningham, Michael L, Seto, Marianne L, Hing, Anne V, Bull, Marilyn J, Hopkin, Robert J, Leppig, Kathleen A
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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