Ectodermal Dysplasia with Cleft Palate and Ankyloblepharon
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-21855-3_20
Reference21 articles.
1. Barbaro V, Nardiello P, Castaldo G, Willoughby CE, Ferrari S, Ponzin D, et al. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. Am J Med Genet A. 2012;158A:1957–61.
2. Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, Van Bokhoven H. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clin Genet. 2004;66:79–80.
3. Cabiling DS, Yan AC, McDonald-McGinn DM, Zackai EH, Kirschner RE. Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome. Cleft Palate Craniofac J. 2007;3:335–9.
4. Clements SE, Techanukul T, Lai-Cheong JE, Mee JB, South AP, Pourreyron C, et al. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology. Br J Dermatol. 2012;167:134–44.
5. D M, Sugathan DK, Railey M, Alrukhaimi M. Renal failure in Hay-Wells syndrome. Saudi J Kidney Dis Transpl. 2013;24(6):1214–6.
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