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Journal Abstract Search

242 related items for PubMed ID: 22329826

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  • 2. 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
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  • 7. 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 28; 47(1):196. PubMed ID: 34583755
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  • 8. 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 28; 149A(9):1935-41. PubMed ID: 19697429
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  • 10. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
    Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA.
    Br J Dermatol; 2010 Sep 28; 163(3):624-9. PubMed ID: 20491771
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  • 11. Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix.
    Sheckter C, Rommer E, Francis C, Block V, Chen J, Rizvi M, Urata MM, Hammoudeh J.
    J Craniofac Surg; 2013 Jan 28; 24(1):e28-30. PubMed ID: 23348327
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  • 13. 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 28; 46(5):422-425. PubMed ID: 30809829
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  • 14. 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 28; 149A(9):1948-51. PubMed ID: 19676060
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  • 15. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes.
    Sahin MT, Türel-Ermertcan A, Chan I, McGrath JA, Oztürkcan S.
    Clin Exp Dermatol; 2004 Sep 28; 29(5):486-8. PubMed ID: 15347331
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  • 16. 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 28; 7(6):e704. PubMed ID: 31050217
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  • 18. 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 28; 30(3):282-5. PubMed ID: 15807690
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  • 19. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
    Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, Zhou H, Ambrosio R, Rice DP, Acampora D, van Bokhoven H, Del Vecchio L, Koster MI, Tadini G, Spencer-Dene B, Dixon M, Dixon J, Missero C.
    EMBO Mol Med; 2012 Mar 28; 4(3):192-205. PubMed ID: 22247000
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  • 20. Sweating ability of patients with p63-associated syndromes.
    Ferstl P, Wohlfart S, Schneider H.
    Eur J Pediatr; 2018 Nov 28; 177(11):1727-1731. PubMed ID: 30088137
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