| 1 | MAP3K1, XYDSDM |
| MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. | |
| Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. | |
| Am J Med Genet C Semin Med Genet 175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15. 2017 | |
| 2 | MAP3K1, XYDSDM |
| Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. | |
| Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. | |
| Am J Hum Genet 87(6):898-904.PMID: 21129722 2010 | |