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

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 9; pp. 1885 - 1893
• 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.
• Format: Journal Article
• Language: English
• Published: 01.09.2009

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...