An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia, and dental abnormalities. Mutations involving Runt-related transcription factor 2 (RUNX2) are currently the only known molecular etiology for CCD but are not identified in all CCD patients. NoRUNX2abnormality can be detected in about 20–30% of patients, and the molecular...

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