单基因遗传性皮肤病研究的历史、现状与展望

doi:10.35541/cjd.20200240

Abstract

Abstract: 【Abstract】 Single-gene skin diseases include nearly 1 000 kinds of diseases with different phenotypes. A lot of significant progress has been made in research on their etiology and pathogenesis in the past 30 years, and Chinese dermatologists have played an important role in this process. With the advancement of technology, genetic testing has become a routine means of diagnosis. The chance of discovering new and important single-gene skin diseases is gradually decreasing. The focus of research in this field will gradually shift to non-classical genetic skin diseases and gene therapy.

Key words: Genetic diseases, inborn, Skin diseases, DNA mutational analysis, Genetic diagnosis, Genetic therapy

Yang Yong. Single-gene skin disease research: past, present and prospect[J]. Chinese Journal of Dermatology, 2020, 53(4): 244-247.doi:10.35541/cjd.20200240

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Single-gene skin disease research: past, present and prospect

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