The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

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作者： Ran,Mo ^[1] ; Xiaoqi,Ma ^[2] ; Linghan,Hu ^[1] ; Yingjian,Tan ^[3] ; Lei,Qiang ^[4] ; Yong,Yang ^[1] ; Xiaoping,Wang ^[5] ; Zhiming,Chen ^[6]

作者单位： Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. ^[1] Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China; State Key Laboratory of Natural Medicines, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China. ^[2] Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China; Department of Dermatology, Fuzhou First General Hospital, Fuzhou, China. ^[3] State Key Laboratory of Natural Medicines, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China. ^[4] State Key Laboratory of Natural Medicines, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China. Electronic address: cpuwxp@163.com. ^[5] Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. Electronic address: zmchen@pumcderm.cams.cn. ^[6]

关键词 Olmsted syndrome TRPV3 compound heterozygous variants