| 1 | KFS2, MEOX1 |
| Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly. | |
| Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. | |
| Am J Hum Genet 92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3. 2013 | |
| 2 | KFS2 |
| De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. | |
| Fukushima Y, et al. | |
| Am J Med Genet 57 : 447-449. 1995 | |