Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in RUNX2 identified in 3 affected members of a Polish family… (More)
DOI: 10.1159/000477307

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