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2. 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]
3. 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]
4. Sweating ability of patients with p63-associated syndromes. Ferstl P; Wohlfart S; Schneider H Eur J Pediatr; 2018 Nov; 177(11):1727-1731. PubMed ID: 30088137 [TBL] [Abstract][Full Text] [Related]
5. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. Serra V; Castori M; Paradisi M; Bui L; Melino G; Terrinoni A Am J Med Genet A; 2011 Dec; 155A(12):3104-9. PubMed ID: 22069181 [TBL] [Abstract][Full Text] [Related]
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7. Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Gonzalez F; Loidi L; Abalo-Lojo JM Ophthalmic Genet; 2017; 38(3):277-280. PubMed ID: 27485918 [TBL] [Abstract][Full Text] [Related]
8. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. Niculescu L; Wagner M; Westphal DS; Fischer M; Mihatsch W; Prothmann A; Ruzicka T; Wollenberg A; Wolff H; Schmidt H; Giehl KA Acta Derm Venereol; 2019 Jan; 99(1):111-112. PubMed ID: 29956718 [No Abstract] [Full Text] [Related]
9. 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]
10. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. Zhang Z; Cheng R; Liang J; Lu Z; Wang Y; Li M; Yu H; Yao Z J Dermatol; 2019 May; 46(5):422-425. PubMed ID: 30809829 [TBL] [Abstract][Full Text] [Related]
11. 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]
13. TP63-related disorders: two case reports and a brief review of the literature. Nanda A; AlLafi A; Wolf S; AlMasry IM; Betz R Dermatol Online J; 2021 Nov; 27(11):. PubMed ID: 35130400 [TBL] [Abstract][Full Text] [Related]
14. Ectodermal dysplasias: the p63 tail. Tadini G; Santagada F; Brena M; Pezzani L; Nannini P G Ital Dermatol Venereol; 2013 Feb; 148(1):53-8. PubMed ID: 23407076 [TBL] [Abstract][Full Text] [Related]
15. An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. Lehmann K; Mundlos S; Meinecke P Eur J Pediatr; 2005 Aug; 164(8):530-1. PubMed ID: 15889277 [No Abstract] [Full Text] [Related]
17. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121 [TBL] [Abstract][Full Text] [Related]
18. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I BMC Med Genet; 2018 Mar; 19(1):41. PubMed ID: 29523099 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. Gawrych E; Bińczak-Kuleta A; Janiszewska-Olszowska J; Ciechanowicz A Ann Acad Med Stetin; 2013; 59(1):11-4. PubMed ID: 24734328 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]