1 | DUP6PM, RUNX2 |
Pure de novo partial trisomy 6p in a girl with craniosynostosis. | |
Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB. | |
Am J Med Genet A m J Med Genet A. 2013 Jan 10. doi: 10.1002/ajmg.a.35727. [Epub ahead of print] 2013 | |
2 | DUP6PM |
Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay. | |
Andrieux J, Richebourg S, Duban-Bedu B, Petit F, Leprêtre F, Sukno S, Dehouck MB, Delobel B. | |
Eur J Med Genet 51(4):373-81. Epub 2008 Mar 28. 2008 | |