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22. Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome with neonatal erythroderma: report of two cases. Yoo J; Berk DR; Fabre E; Lind AC; Mallory SB Int J Dermatol; 2007 Nov; 46(11):1196-7. PubMed ID: 17988343 [No Abstract] [Full Text] [Related]
23. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Cole P; Hatef DA; Kaufman Y; Magruder A; Bree A; Friedman E; Sindwani R; Hollier LH Am J Med Genet A; 2009 Sep; 149A(9):1910-5. PubMed ID: 19697430 [TBL] [Abstract][Full Text] [Related]
24. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders. Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217 [TBL] [Abstract][Full Text] [Related]
25. Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Bree AF Am J Med Genet A; 2009 Sep; 149A(9):1894-9. PubMed ID: 19676057 [TBL] [Abstract][Full Text] [Related]
26. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Sutton VR; Plunkett K; Dang DX; Lewis RA; Bree AF; Bacino CA Am J Med Genet A; 2009 Sep; 149A(9):1916-21. PubMed ID: 19676059 [TBL] [Abstract][Full Text] [Related]
27. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Dishop MK; Bree AF; Hicks MJ Am J Med Genet A; 2009 Sep; 149A(9):1935-41. PubMed ID: 19697429 [TBL] [Abstract][Full Text] [Related]
28. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology. Clements SE; Techanukul T; Lai-Cheong JE; Mee JB; South AP; Pourreyron C; Burrows NP; Mellerio JE; McGrath JA Br J Dermatol; 2012 Jul; 167(1):134-44. PubMed ID: 22329826 [TBL] [Abstract][Full Text] [Related]
29. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Fete M; vanBokhoven H; Clements SE; McKeon F; Roop DR; Koster MI; Missero C; Attardi LD; Lombillo VA; Ratovitski E; Julapalli M; Ruths D; Sybert VP; Siegfried EC; Bree AF Am J Med Genet A; 2009 Sep; 149A(9):1885-93. PubMed ID: 19353643 [TBL] [Abstract][Full Text] [Related]
30. A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias. Dinella JD; Chen J; Webb S; Siegfried E; Bree AF; Lakshmanachetty S; Balaiya V; Koster MI; Koch PJ J Invest Dermatol; 2018 Jul; 138(7):1662-1665. PubMed ID: 29481901 [No Abstract] [Full Text] [Related]
31. DeltaNp63 knockdown mice: A mouse model for AEC syndrome. Koster MI; Marinari B; Payne AS; Kantaputra PN; Costanzo A; Roop DR Am J Med Genet A; 2009 Sep; 149A(9):1942-7. PubMed ID: 19681108 [TBL] [Abstract][Full Text] [Related]
32. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families. Soğukpınar M; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ Eur J Med Genet; 2024 Apr; 68():104911. PubMed ID: 38281558 [TBL] [Abstract][Full Text] [Related]
33. Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Farrington F; Lausten L Am J Med Genet A; 2009 Sep; 149A(9):1907-9. PubMed ID: 19681142 [TBL] [Abstract][Full Text] [Related]
34. Modeling AEC-New approaches to study rare genetic disorders. Koch PJ; Dinella J; Fete M; Siegfried EC; Koster MI Am J Med Genet A; 2014 Oct; 164A(10):2443-54. PubMed ID: 24665072 [TBL] [Abstract][Full Text] [Related]
35. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Childs AJ; Mabin DC; Turnpenny PD Am J Med Genet A; 2020 Aug; 182(8):1939-1943. PubMed ID: 32476291 [TBL] [Abstract][Full Text] [Related]
36. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. Barbaro V; Nasti AA; Raffa P; Migliorati A; Nespeca P; Ferrari S; Palumbo E; Bertolin M; Breda C; Miceli F; Russo A; Caenazzo L; Ponzin D; Palù G; Parolin C; Di Iorio E Stem Cells Transl Med; 2016 Aug; 5(8):1098-105. PubMed ID: 27151912 [TBL] [Abstract][Full Text] [Related]
37. [AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)]. Martínez y Martínez R; Ornelas-Arana ML; Pérez-García G Bol Med Hosp Infant Mex; 1989 May; 46(5):349-51. PubMed ID: 2757778 [TBL] [Abstract][Full Text] [Related]
38. Generalized epidermolysis bullosa with congenital synechiae-associated malformations and unusual ultrastructure: a new entity? Sybert VP Dermatology; 1992; 184(3):227. PubMed ID: 1392121 [No Abstract] [Full Text] [Related]
39. Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome. Cabiling DS; Yan AC; McDonald-McGinn DM; Zackai EH; Kirschner RE Cleft Palate Craniofac J; 2007 May; 44(3):335-9. PubMed ID: 17477760 [TBL] [Abstract][Full Text] [Related]
40. p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Ferone G; Mollo MR; Thomason HA; Antonini D; Zhou H; Ambrosio R; De Rosa L; Salvatore D; Getsios S; van Bokhoven H; Dixon J; Missero C Hum Mol Genet; 2013 Feb; 22(3):531-43. PubMed ID: 23108156 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]