A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome

    April 2002 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    M.A.M. van Steensel, Michel van Geel, P.M. Steijlen … J.H. Sillevis Smitt
    Studysummary This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
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