Article
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.
Genetics and molecular research : GMR - 12 Jan 2010
Wang G X, Sun R P, Song F L
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fon...
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