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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: lee m. 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: lee m. 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.
Semidominant Inheritance in Olmsted Syndrome.
Cao X, Wang H, Li Y, Lee M, Jiang L, Zhou Y, Feng C, Lin Z, Yang Y. Cao X, et al. Among authors: lee m. J Invest Dermatol. 2016 Aug;136(8):1722-1725. doi: 10.1016/j.jid.2016.04.024. Epub 2016 May 14. J Invest Dermatol. 2016. PMID: 27189830 Free article. No abstract available.
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