Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

    January 2014 in “ Dermatology ”
    Shirli Israeli, Ofer Sarig, Ben Zion Garty … Ilan Goldberg
    Studysummary This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
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    Research cited in this study 4

    1. Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity Nature Genetics · 2004
    2. Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings ˆThe ‰journal of allergy and clinical immunology/Journal of allergy and clinical immunology/˜The œjournal of allergy and clinical immunology · 1995
    3. Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair) Journal of Investigative Dermatology · 1984
    4. A Unique Case of Trichorrhexis Nodosa: Bamboo Hairs Archives of Dermatology · 1958