| 1 | EXTL3, NISDS |
| Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. | |
| Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJ, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. | |
| Am J Hum Genet 100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. 2017 | |