Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has...

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Detalles Bibliográficos
Autores principales: Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021280/
https://www.ncbi.nlm.nih.gov/pubmed/27622494
http://dx.doi.org/10.1371/journal.pgen.1006307

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021280/
https://www.ncbi.nlm.nih.gov/pubmed/27622494
http://dx.doi.org/10.1371/journal.pgen.1006307

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