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Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y. Lin Z, et al. Among authors: zhang p, zhang j. Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006. Am J Hum Genet. 2012. PMID: 22405088 Free PMC article.
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y. Lin Z, et al. Among authors: zhang j, zhang x. Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063621 Free PMC article.
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes.
Zhao J, Munanairi A, Liu XY, Zhang J, Hu L, Hu M, Bu D, Liu L, Xie Z, Kim BS, Yang Y, Chen ZF. Zhao J, et al. Among authors: zhang j. J Invest Dermatol. 2020 Aug;140(8):1524-1532. doi: 10.1016/j.jid.2020.01.012. Epub 2020 Jan 29. J Invest Dermatol. 2020. PMID: 32004565 Free PMC article.
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.
Zhong W, Hu L, Cao X, Zhao J, Zhang X, Lee M, Wang H, Zhang J, Chen Q, Feng C, Duo L, Wang X, Tang L, Lin Z, Yang Y. Zhong W, et al. Among authors: zhang j, zhang x. J Invest Dermatol. 2021 Mar;141(3):545-554. doi: 10.1016/j.jid.2020.06.035. Epub 2020 Aug 11. J Invest Dermatol. 2021. PMID: 32795529 Free article.
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