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Journal Abstract Search

119 related items for PubMed ID: 32808299

  • 1. Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma.
    Lam MW, Veitch D, Woo PN.
    Int J Dermatol; 2020 Dec; 59(12):e454-e455. PubMed ID: 32808299
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  • 4. A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
    Stanghellini I, Genovese E, Palma S, Falcinelli C, Presutti L, Percesepe A.
    Acta Otorhinolaryngol Ital; 2017 Aug; 37(4):308-311. PubMed ID: 28872160
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  • 7. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
    Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P, Delfino M, Ciccodicola A, Marciano E, Franzé A.
    Am J Med Genet A; 2009 Feb 15; 149A(4):685-8. PubMed ID: 18688874
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  • 9. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
    Akiyama M, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H.
    J Invest Dermatol; 2007 Jun 15; 127(6):1540-3. PubMed ID: 17255958
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  • 11. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
    Bousfiha A, Bakhchane A, Elrharchi S, Dehbi H, Kabine M, Nadifi S, Charoute H, Barakat A.
    Curr Res Transl Med; 2016 Jun 15; 64(2):61-4. PubMed ID: 27316387
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  • 13. Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
    Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.
    Clin Genet; 2005 Aug 15; 68(2):161-6. PubMed ID: 15996214
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  • 15. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
    Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J.
    Hum Mutat; 2019 Feb 15; 40(2):217-229. PubMed ID: 30431684
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  • 16. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.
    Am J Pathol; 2008 Oct 15; 173(4):1113-9. PubMed ID: 18787097
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  • 19. Connecting with connexins.
    Williams P, Memon A, Sinha T, Fryer A.
    Australas J Dermatol; 2013 Nov 15; 54(4):287-9. PubMed ID: 23808595
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