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Cleidocranial dysplasia: Molecular genetic analysis and phenotypic‐based description of a Middle European patient group

Baumert, Uwe ; Golan, Ilan ; Redlich, Meir ; Aknin, Jean‐Jacques ; Muessig, Dieter



Abstract

Cleidocranial dysplasia (CCD) (OMIM 119600) is a rare dysplasia of osseous and dental tissue. Characteristic features are typical facial and dental appearance plus morphologic anomalies. RUNX2 (OMIM 600211), the responsible gene for CCD, is considered to be a master gene for bone development and bone homeostasis. This study describes the genotype-phenotype correlation based on craniofacial ...

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