A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

<p>Abstract</p> <p>Background</p> <p>Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the ge...

Full description

Bibliographic Details
Main Authors: Wang Xiaoqin, Jiang Yusheng, Yang Xuemei, Du Jicheng, Xu Xueqin, Xu Qiyu, Tang Shaohua, Speck Nancy, Huang Taosheng
Format: Article
Language:English
Published: BMC 2007-12-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/8/82

Similar Items

Similar Items