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Journal Abstract Search

145 related items for PubMed ID: 31408183

  • 1. Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
    Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F.
    Acta Derm Venereol; 2019 Nov 01; 99(12):1192-1194. PubMed ID: 31408183
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  • 4. 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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  • 5. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
    Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC.
    J Korean Med Sci; 2010 Oct 15; 25(10):1539-42. PubMed ID: 20890442
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  • 6. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
    Heathcote K, Syrris P, Carter ND, Patton MA.
    J Med Genet; 2000 Jan 15; 37(1):50-1. PubMed ID: 10633135
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  • 11. 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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  • 13. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
    Kelly B, Lozano A, Altenberg G, Makishima T.
    Int J Dermatol; 2008 May 15; 47(5):443-7. PubMed ID: 18412859
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  • 14. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.
    Yuan Y, Huang D, Yu F, Zhu X, Kang D, Yuan H, Han D, Dai P.
    Am J Med Genet A; 2009 Feb 15; 149A(4):689-92. PubMed ID: 18924167
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  • 15. 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 Feb 15; 64(2):61-4. PubMed ID: 27316387
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  • 18. 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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  • 19. G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss.
    Chen LH, Lin HC, Sheu HM, Chao SC.
    Clin Exp Dermatol; 2012 Apr 15; 37(3):300-1. PubMed ID: 22007731
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