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

BACKGROUND: 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 genetic basis of Chinese family with CCD. METHODS: Here,...

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Detalles Bibliográficos
Autores principales: Tang, Shaohua, Xu, Qiyu, Xu, Xueqin, Du, Jicheng, Yang, Xuemei, Jiang, Yusheng, Wang, Xiaoqin, Speck, Nancy, Huang, Taosheng
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2241583/
https://www.ncbi.nlm.nih.gov/pubmed/18166138
http://dx.doi.org/10.1186/1471-2350-8-82

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