| 1 | DUP8Q12
|
| Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
|
| Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D.
|
| Eur J Hum Genet 20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18.
2012
|
| 2 | CHD7, DUP8Q12
|
| Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
|
| Luo H, Xie L, Wang SZ, Chen JL, Huang C, Wang J, Yang JF, Zhang WZ, Yang YF, Tan ZP.
|
| Eur J Med Genet 55(11):646-9. doi: 10.1016/j.ejmg.2012.07.006. Epub 2012 Jul 31.
2012
|
| 3 | CHD7, DUP8Q12
|
| A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.
|
| Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L.
|
| Eur J Med Genet 52(6):436-9. Epub 2009 Sep 17. 2009
|