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

• Asıl Yazarlar: Wang Xiaoqin (Yazar), Jiang Yusheng (Yazar), Yang Xuemei (Yazar), Du Jicheng (Yazar), Xu Xueqin (Yazar), Xu Qiyu (Yazar), Tang Shaohua (Yazar), Speck Nancy (Yazar), Huang Taosheng (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2007-12-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<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...