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p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
Ankyloblepharon, ectodermal defects, cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the p63 gene, essential for embryonic development of stratified epithelia. The most severe cutaneous manifestation of this disorder is the long-lasting skin fragility ass...
Autores principales: | Ferone, Giustina, Mollo, Maria Rosaria, Thomason, Helen A., Antonini, Dario, Zhou, Huiqing, Ambrosio, Raffaele, De Rosa, Laura, Salvatore, Domenico, Getsios, Spiro, van Bokhoven, Hans, Dixon, Jill, Missero, Caterina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542863/ https://www.ncbi.nlm.nih.gov/pubmed/23108156 http://dx.doi.org/10.1093/hmg/dds464 |
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