[1] |
He Y, Zeng K, Zhang X, et al. A gain⁃of⁃function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family[J]. J Invest Dermatol, 2015,135(3):907⁃909. doi: 10.1038/ jid.2014.429.
|
[2] |
Lin Z, Chen Q, Lee M, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome[J]. Am J Hum Genet, 2012,90(3):558⁃564. doi: 10.1016/j.ajhg.2012.02.006.
|
[3] |
Duchatelet S, Hovnanian A. Olmsted syndrome: clinical, molecular and therapeutic aspects[J]. Orphanet J Rare Dis, 2015,10:33. doi: 10.1186/s13023⁃015⁃0246⁃5.
|
[4] |
卢建, 胡蓉, 刘玲, 等. 一例Olmsted综合征患儿的临床及基因变异分析[J]. 中华医学遗传学杂志, 2021,38(7):4. doi: 10.3760/cma.j.cn511374⁃20200811⁃00597.
|
[5] |
Caterina MJ. TRP channel cannabinoid receptors in skin sensation, homeostasis, and inflammation[J]. ACS Chem Neurosci, 2014,5(11):1107⁃1116. doi: 10.1021/cn5000919.
|
[6] |
朱学骏, 王宝玺, 孙建方, 等. 皮肤病学[M]. 4版. 北京: 北京大学医学出版社, 2019:1025⁃1026.
|
[7] |
Zhong W, Hu L, Cao X, et al. Genotype⁃phenotype correlation of TRPV3⁃related Olmsted syndrome[J]. J Invest Dermatol, 2021,141(3):545⁃554. doi: 10.1016/j.jid.2020.06.035.
|
[8] |
Ni C, Yan M, Zhang J, et al. A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome[J]. Sci Rep, 2016,6:21815. doi: 10.1038/srep21815.
|
[9] |
Wilson NJ, Cole C, Milstone LM, et al. Expanding the phenotypic spectrum of Olmsted syndrome[J]. J Invest Dermatol, 2015,135(11):2879⁃2883. doi: 10.1038/jid.2015.217.
|