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Journal Abstract Search

210 related items for PubMed ID: 22011219

  • 1. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
    Lazic T, Li Q, Frank M, Uitto J, Zhou LH.
    Pediatr Dermatol; 2012; 29(3):349-57. PubMed ID: 22011219
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  • 3. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
    Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M.
    Clin Exp Dermatol; 2011 Mar; 36(2):142-8. PubMed ID: 20846357
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  • 7. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
    Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.
    Am J Hum Genet; 2002 May; 70(5):1341-8. PubMed ID: 11912510
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  • 10. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
    Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, Grati M, Couderc R, Denoyelle F, Bodemer C, Marlin S, Hadj-Rabia S.
    Eur J Med Genet; 2008 May; 51(1):35-43. PubMed ID: 18024254
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  • 16. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
    Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O.
    Am J Med Genet A; 2005 Mar 01; 133A(2):128-31. PubMed ID: 15633193
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  • 17. [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
    Binder B, Hennies HC, Kraschl R, Smolle J.
    J Dtsch Dermatol Ges; 2005 Feb 01; 3(2):105-8. PubMed ID: 16351012
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