| 1 | FADSL, MUSK |
| MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). | |
| Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. | |
| J Med Genet 52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. 2015 | |
| 2 | FADSL, MUSK |
| Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. | |
| Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. | |
| Eur J Hum Genet ur J Hum Genet. 2014 Dec 24. doi: 10.1038/ejhg.2014.273. [Epub ahead of print] 2014 | |