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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: liu y, liu q. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X. Zhu H, et al. Among authors: liu y, liu q. Am J Hum Genet. 2011 Jun 10;88(6):819-826. doi: 10.1016/j.ajhg.2011.05.004. Am J Hum Genet. 2011. PMID: 21636067 Free PMC article.
Type I congenital methemoglobinemia in a Chinese family.
Ji J, Liu Y, Chen M. Ji J, et al. Among authors: liu y. Ann Hematol. 2021 Sep;100(9):2417-2419. doi: 10.1007/s00277-020-04141-z. Epub 2020 Jun 17. Ann Hematol. 2021. PMID: 32556454 No abstract available.
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