Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K.
Barbaux S, et al. Among authors: gubler mc.
Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467.
Nat Genet. 1997.
PMID: 9398852