A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome

    September 2010 in “ Clinical and Experimental Dermatology ”
    Uffe Koppelhus, Lisbeth Tranebjærg, Gitte Esberg … Mette Sommerlund
    Studysummary This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
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    Research cited in this study 1

    1. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2002