Article
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.
Molecular genetics and metabolism - 1 Jan 2000
Napierala Dobrawa, Garcia-Rojas Xavier, Sam Kathy, Wakui Keiko, Chen Connie, Mendoza-Londono Roberto, Zhou Guang, Zheng Qiping, Lee Brendan
Abstract excerpt
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal malformation syndrome with high penetrance and variable expressivity. It is caused by loss of function mutations in the RUNX2 gene that encodes for a transcription factor essential for osteoblast differentiation and chondrocyte maturation. To identify new pathogenic mutations associated with CCD we screened 38 CCD patients for mutations in the RUNX2...
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