| 1 | FMTD2, MAP3K7 |
| Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. | |
| Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. | |
| Am J Hum Genet 99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15. 2016 | |