Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the different...

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Detalhes bibliográficos
Main Authors: Fete, Mary, vanBokhoven, Hans, Clements, Suzanne, McKeon, Frank, Roop, Dennis R., Koster, Maranke I., Missero, Caterina, Attardi, Laura D., Lombillo, Vivian A., Ratovitski, Edward, Julapalli, Meena, Ruths, Derek, Sybert, Virginia P., Siegfried, Elaine C., Bree, Alanna F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2736474/
https://ncbi.nlm.nih.gov/pubmed/19353643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32761
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