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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: feng c. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X. Lin Z, et al. Among authors: feng c. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798626
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: feng c. 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.
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: feng c. 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.
7,709 results