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RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We a...

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Detalles Bibliográficos
Autores principales: Lin, Wei-De, Lin, Shuan-Pei, Wang, Chung-Hsing, Tsai, Yushin, Chen, Chih-Ping, Tsai, Fuu-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115309/
https://www.ncbi.nlm.nih.gov/pubmed/21734816
http://dx.doi.org/10.1590/S1415-47572011005000002