Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.

Abstract excerpt

BACKGROUND: Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. CASE DESCRIPTION: A 52 year-old Han Chinese woman presented with short stature and skeletal dysplasia that was first noted...

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• Asian People
• Cleidocranial Dysplasia
• Core Binding Factor Alpha 1 Subunit
• RUNX2 gene
• Mutation