Genetic Conditions > ankyloblepharon-ectodermal defects-cleft lip/palate syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review. PubMed citation
Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R, Hollier LH Jr. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009 Sep;149A(9):1910-5. doi: 10.1002/ajmg.a.32836. PubMed citation
Dishop MK, Bree AF, Hicks MJ. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826. PubMed citation
Farrington F, Lausten L. Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009 Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790. PubMed citation
Gene Review: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797. PubMed citation
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet. 2001 Feb 1;10(3):221-9. PubMed citation
Motil KJ, Fete TJ. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. Am J Med Genet A. 2009 Sep;149A(9):1922-5. doi: 10.1002/ajmg.a.32789. PubMed citation
Siegfried E, Bree A, Fete M, Sybert VP. Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate. Arch Dermatol. 2005 Dec;141(12):1591-4. Review. PubMed citation
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources