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
2FGS1, GLI3, LJFS1, MED12
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.
Proc Natl Acad Sci U S A 109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22. 2012
3CDK8, FGS1, GLI3, LJFS1, MED12
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.
Proc Natl Acad Sci U S A 109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22. 2012
4LJFS1, MED12
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE.
J Med Genet 44(7):472-7. Epub 2007 Mar 16. 2007
5LJFS1, LJFS2
X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G.
Am J Med Genet 38(2-3):228-32. 1991
6LJFS1, LJFS2
A form of X-linked mental retardation with marfanoid habitus.
Lujan JE, Carlin ME, Lubs HA.
Am J Med Genet 17(1):311-22. 1984