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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...
Autores principales: | Zhang, Xianli, Liu, Yang, Wang, Xiaozhe, Sun, Xiangyu, Zhang, Chenying, Zheng, Shuguo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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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 |
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