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Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In...

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Detalles Bibliográficos
Autores principales: Zhang, Xianli, Liu, Yang, Wang, Xiaozhe, Sun, Xiangyu, Zhang, Chenying, Zheng, Shuguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524338/
https://www.ncbi.nlm.nih.gov/pubmed/28738062
http://dx.doi.org/10.1371/journal.pone.0181653