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Journal Abstract Search

354 related items for PubMed ID: 174848

  • 1. Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.
    Bowen P, Armstrong HB.
    Clin Genet; 1976 Jan; 9(1):35-42. PubMed ID: 174848
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  • 2. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.
    Hay RJ, Wells RS.
    Br J Dermatol; 1976 Mar; 94(3):277-89. PubMed ID: 946410
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  • 3. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.
    Oğur G, Yüksel M.
    J Med Genet; 1988 Jan; 25(1):37-40. PubMed ID: 2832607
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  • 4. Syndactyly, ectodermal dysplasia, and cleft lip/palate.
    Zlotogora J.
    J Med Genet; 1994 Dec; 31(12):957-9. PubMed ID: 7891379
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  • 6. 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
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  • 7. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.
    Greene SL, Michels VV, Doyle JA.
    Am J Med Genet; 1987 May; 27(1):207-12. PubMed ID: 3605196
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  • 9. 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 15; 27(11):. PubMed ID: 35130400
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  • 10. 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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  • 13. 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 28; 149A(9):1900-6. PubMed ID: 19681128
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  • 15. 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 28; 155A(12):3104-9. PubMed ID: 22069181
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  • 17. The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.
    Brill CB, Hsu LY, Hirschhorn K.
    Clin Genet; 1972 Dec 28; 3(5):295-302. PubMed ID: 5084380
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  • 19. Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
    Sankhyan N, Kaushal RK, Sarin S.
    Dermatol Online J; 2006 May 30; 12(4):5. PubMed ID: 17083860
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  • 20. 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 30; 149A(9):1935-41. PubMed ID: 19697429
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