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4. Acro-cardio-facial syndrome: a microdeletion syndrome? Toschi B; Valetto A; Bertini V; Congregati C; Cantinotti M; Assanta N; Simi P Am J Med Genet A; 2012 Aug; 158A(8):1994-9. PubMed ID: 22740423 [TBL] [Abstract][Full Text] [Related]
5. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 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 Hum Mol Genet; 2001 Feb; 10(3):221-9. PubMed ID: 11159940 [TBL] [Abstract][Full Text] [Related]
6. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Duijf PH; Vanmolkot KR; Propping P; Friedl W; Krieger E; McKeon F; Dötsch V; Brunner HG; van Bokhoven H Hum Mol Genet; 2002 Apr; 11(7):799-804. PubMed ID: 11929852 [TBL] [Abstract][Full Text] [Related]
7. Further phenotypic and genetic variation in ADULT syndrome. Reisler TT; Patton MA; Meagher PP Am J Med Genet A; 2006 Nov; 140(22):2495-500. PubMed ID: 17041931 [TBL] [Abstract][Full Text] [Related]
8. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Chiu YE; Drolet BA; Duffy KJ; Holland KE Pediatr Dermatol; 2011; 28(1):15-9. PubMed ID: 19793345 [TBL] [Abstract][Full Text] [Related]
9. 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]
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. p63-associated disorders. Rinne T; Brunner HG; van Bokhoven H Cell Cycle; 2007 Feb; 6(3):262-8. PubMed ID: 17224651 [TBL] [Abstract][Full Text] [Related]
12. EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Maclean K; Holme SA; Gilmour E; Taylor M; Scheffer H; Graf N; Smith GH; Onikul E; van Bokhoven H; Moss C; Adès LC Am J Med Genet A; 2007 May; 143A(10):1114-9. PubMed ID: 17431922 [TBL] [Abstract][Full Text] [Related]
13. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Guion-Almeida ML; Zechi-Ceide RM; Richieri-Costa A Clin Dysmorphol; 2000 Oct; 9(4):269-72. PubMed ID: 11045583 [TBL] [Abstract][Full Text] [Related]
14. Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. Steele JA; Hansen H; Arn P; Kwong PC Pediatr Dermatol; 2005; 22(5):415-9. PubMed ID: 16190990 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC Clin Exp Dermatol; 2009 Dec; 34(8):e726-8. PubMed ID: 19663851 [TBL] [Abstract][Full Text] [Related]
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18. 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]
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. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Clements SE; Techanukul T; Coman D; Mellerio JE; McGrath JA Br J Dermatol; 2010 Jan; 162(1):201-7. PubMed ID: 19903181 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]