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    Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia

    Core binding factor A1 (CBFA1/RUNX2) is a runt-like transcription factor essential for osteoblast differentiation. Haplotype insufficiency causes cleidocranial dysplasia (CCD), a syndrome featuring supernumera...

    C. Bergwitz, A. Prochnau, B. Mayr, F.-J. Kramer… in Journal of Inherited Metabolic Disease (2001)