Funder
Chinese Academy of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? Eur J Hum Genet. 2018;26:359–66.
2. Tian Q, Li YP, Kousar R, Guo H, Peng FL, Zheng Y, et al. A novel NHS 339 mutation causes Nance-Horan syndrome in a Chinese family. Bmc Med Genet. 2017;18(1):2.
https://doi.org/10.1186/s12881-016-0360-9
.
3. Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, et al. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet. 2003;73:1120–30.
4. Liao HM, Niu DM, Chen YJ, Fang JS, Chen SJ, Chen CH. Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. J Hum Genet. 2011;56:8–11.
5. Nance WE, Warburg M, Bixler D, Helveston EM. Congenital X-linked cataract dental anomalies and brachymetacarpalia. Birth defects original article series. 1974;10:285–91.
Cited by
13 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献