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遗传性对称性色素异常症一家系ADAR基因新突变

何艳艳,王雯竹,刘振, 张敏,马骁, 王宝玺,曾荣, 徐浩翔

Journal of Practical Dermatology（2022）

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Abstract
报告1家系确诊的遗传性对称性色素异常症(dyschromia symmetry hereditary,DSH)患者ADAR基因新突变.先证者为青年女性患者,双侧手足背色素加深伴色素减退29年,临床表现为双手足伸侧皮肤对称分布粟粒、黄豆大小黑褐色斑疹,间杂以色素减退及色素脱失斑.基因测序结果示:ADAR基因无义突变(c.2092G＞U).诊断:遗传性对称性色素异常症.
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