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5. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Bertola DR; Kim CA; Albano LM; Scheffer H; Meijer R; van Bokhoven H Clin Genet; 2004 Jul; 66(1):79-80. PubMed ID: 15200513 [No Abstract] [Full Text] [Related]
6. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Shotelersuk V; Janklat S; Siriwan P; Tongkobpetch S Clin Exp Dermatol; 2005 May; 30(3):282-5. PubMed ID: 15807690 [TBL] [Abstract][Full Text] [Related]
7. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083 [TBL] [Abstract][Full Text] [Related]
8. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. Payne AS; Yan AC; Ilyas E; Li W; Seykora JT; Young TL; Pawel BR; Honig PJ; Camacho J; Imaizumi S; Heymann WR; Schnur RE Arch Dermatol; 2005 Dec; 141(12):1567-73. PubMed ID: 16365259 [TBL] [Abstract][Full Text] [Related]
9. AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation. Berk DR; Crone K; Bayliss SJ Pediatr Dermatol; 2009; 26(5):617-8. PubMed ID: 19840326 [TBL] [Abstract][Full Text] [Related]
10. Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Rinne T; Bolat E; Meijer R; Scheffer H; van Bokhoven H Am J Med Genet A; 2009 Sep; 149A(9):1948-51. PubMed ID: 19676060 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. Tsutsui K; Asai Y; Fujimoto A; Yamamoto M; Kubo M; Hatta N Br J Dermatol; 2003 Aug; 149(2):395-9. PubMed ID: 12932250 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up. Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755 [TBL] [Abstract][Full Text] [Related]
15. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Julapalli MR; Scher RK; Sybert VP; Siegfried EC; Bree AF Am J Med Genet A; 2009 Sep; 149A(9):1900-6. PubMed ID: 19681128 [TBL] [Abstract][Full Text] [Related]
16. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. Sawardekar SS; Zaenglein AL Pediatr Dermatol; 2011; 28(3):313-7. PubMed ID: 20738799 [TBL] [Abstract][Full Text] [Related]
17. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Moerman P; Fryns JP Am J Med Genet; 1996 Jun; 63(3):479-81. PubMed ID: 8737656 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis. Pratsou P; Defty CL; Ozoemena L; McGrath JA; Moss C; Gach JE Clin Exp Dermatol; 2014 Mar; 39(2):266-8. PubMed ID: 24460914 [No Abstract] [Full Text] [Related]
20. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. Ladda RL; Zonana J; Ramer JC; Mascari MJ; Rogan PK Am J Med Genet; 1993 Sep; 47(4):550-5. PubMed ID: 7504881 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]