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Journal Abstract Search

159 related items for PubMed ID: 25846959

  • 1. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
    Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.
    Am J Med Genet A; 2015 Jun; 167(6):1309-14. PubMed ID: 25846959
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  • 2. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
    Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA.
    Pediatr Dermatol; 2014 Jun; 31(4):493-6. PubMed ID: 24915996
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  • 3. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
    Kolb-Mäurer A, Grzeschik KH, Haas D, Bröcker EB, Hamm H.
    Acta Derm Venereol; 2008 Jun; 88(1):47-51. PubMed ID: 18176751
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  • 4. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
    Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F.
    Eur J Hum Genet; 2018 Dec; 26(12):1784-1790. PubMed ID: 30135486
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  • 5. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.
    Shotelersuk V, Tongkobpetch S.
    Clin Exp Dermatol; 2005 Jul; 30(4):419-21. PubMed ID: 15953085
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  • 7. Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
    Batista M, Morgado F, Cardoso JC, Moreno A, Ramos L.
    Dermatol Online J; 2020 Oct 15; 26(10):. PubMed ID: 33147667
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  • 16. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
    Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE.
    Nat Genet; 1999 Jul 15; 22(3):286-90. PubMed ID: 10391218
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  • 17. Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
    Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA.
    Br J Dermatol; 2007 Dec 15; 157(6):1225-9. PubMed ID: 17949453
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  • 18. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
    Milunsky JM, Maher TA, Metzenberg AB.
    Am J Med Genet A; 2003 Jan 30; 116A(3):249-54. PubMed ID: 12503101
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