| Literature DB >> 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.Entities:
Keywords: Basal cell nevus syndrome; Congenital ichthyoses; Genodermatoses; Interferonopathies; Next-generation sequencing; PIK3CA-related overgrowth spectrum; Targeted therapeutics; Tuberous sclerosis complex
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Year: 2019 PMID: 30850045 DOI: 10.1016/j.det.2018.11.004
Source DB: PubMed Journal: Dermatol Clin ISSN: 0733-8635 Impact factor: 3.478