Citations for
1FGS1, LJFS1, MED12, OHDOX
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.
Hum Mol Genet 26(11):2062-2075. doi: 10.1093/hmg/ddx099. 2017
2MED12, OHDOX
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
Am J Med Genet A 167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4. 2015
3MED12, OHDOX
Mutations in MED12 Cause X-Linked Ohdo Syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP.
Am J Hum Genet 92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. 2013