Article
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
The Journal of investigative dermatology - 1 Mar 1997
Joh G Y, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley M A, Rothnagel J A, Roop D R
Abstract excerpt
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence of this disorder in a family with two affected generations. The proband suffered from bullous ichthyosis and had bouts...
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