Semidominant Inheritance in Epidermolytic Ichthyosis

    April 2013 in “ Journal of Investigative Dermatology ”
    Janna Nousbeck, Gilly Padalon‐Brauch, Dana Fuchs‐Telem … Eli Sprecher
    Studysummary This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
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    Research cited in this study 4

    1. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012
    2. Keratin Disorders: From Gene to Therapy Human molecular genetics online/Human molecular genetics · 2011
    3. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010
    4. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000