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  • Title: What's New in Genetic Skin Diseases.
    Author: Hill CR, Theos A.
    Journal: Dermatol Clin; 2019 Apr; 37(2):229-239. PubMed ID: 30850045.
    Abstract:
    The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.
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