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Journal Abstract Search

178 related items for PubMed ID: 37525042

  • 1. Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
    Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP.
    Adv Exp Med Biol; 2023; 1423():181-186. PubMed ID: 37525042
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  • 3. Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
    Yapijakis C, Gintoni I, Chrousos G.
    Adv Exp Med Biol; 2021; 1339():337-340. PubMed ID: 35023123
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  • 5. 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 09; 19(1):41. PubMed ID: 29523099
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  • 8. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.
    Greene SL, Michels VV, Doyle JA.
    Am J Med Genet; 1987 May 09; 27(1):207-12. PubMed ID: 3605196
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  • 9. 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 May 09; 38(3):277-280. PubMed ID: 27485918
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  • 11. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.
    Hay RJ, Wells RS.
    Br J Dermatol; 1976 Mar 09; 94(3):277-89. PubMed ID: 946410
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  • 13. Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family.
    Chao SC, Chung CH, Yang CC, Yang MH, Lee JY.
    J Formos Med Assoc; 2003 Jun 09; 102(6):412-7. PubMed ID: 12923595
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  • 16. 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 09; 149A(9):1900-6. PubMed ID: 19681128
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  • 18. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
    Hizem S, Maamouri R, Zaouak A, Rejeb I, Karoui S, Sebai M, Jilani H, Elaribi Y, Fenniche S, Cheour M, Bilan F, Ben Jemaa L.
    Ophthalmic Genet; 2024 Feb 09; 45(1):84-94. PubMed ID: 37158316
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  • 19. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.
    Karthikeyani S, Thirumurthy VR, Yuvaraja BA.
    J Indian Soc Pedod Prev Dent; 2016 Feb 09; 34(2):192-5. PubMed ID: 27080974
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