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The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers

Two decades after the discovery that heterozygous mutations within and around SOX9 cause campomelic dysplasia, a generalized skeleton malformation syndrome, it is well established that SOX9 is a master transcription factor in chondrocytes. In contrast, the mechanisms whereby translocations in the –­...

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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Yao, Baojin, Wang, Qiuqing, Liu, Chia-Feng, Bhattaram, Pallavi, Li, Wei, Mead, Timothy J., Crish, James F., Lefebvre, Véronique
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4477657/
https://ncbi.nlm.nih.gov/pubmed/25940622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkv426
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