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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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Publicado no: | PLoS One |
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Main Authors: | , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Public Library of Science
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5524338/ https://ncbi.nlm.nih.gov/pubmed/28738062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0181653 |
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