| 1 | DEL17q23, DUP17QO, TBX4 |
| Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. | |
| Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA. | |
| Am J Hum Genet 87(1):154-60.PMID: 20598276 2010 | |
| 2 | DUP17QO, TBX2 |
| TBX2 gene duplication associated with complex heart defect and skeletal malformations. | |
| Radio FC, Bernardini L, Loddo S, Bottillo I, Novelli A, Mingarelli R, Dallapiccola B. | |
| Am J Med Genet A 152A(8):2061-6.PMID: 20635360 2010 | |