Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations

Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2. We have performed mutational analysis of RUNX2 on 24 unrelated patients with CCD. In 17 patients, 16 distinct mutations were detec...

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Bibliographic Details
Main Authors: Yoshida, Taketoshi, Kanegane, Hirokazu, Osato, Motomi, Yanagida, Masatoshi, Miyawaki, Toshio, Ito, Yoshiaki, Shigesada, Katsuya
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2002
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC378531/
https://ncbi.nlm.nih.gov/pubmed/12196916
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