- Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Hoshiya, M., Christian, B.P., Cromie, W.J., Kim, H., Zhan, Y., MacLaughlin, D.T., Donahoe, P.K. Birth defects research. Part A, Clinical and molecular teratology. (2003)