Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Authors: Sandrine Barbaux, Patrick Niaudet, Marie-Claire Gübler, Jean‐Pierre Grünfeld, Francis Jaubert, Frédérique Kuttenn, C Fekete, Nicole Souleyreau-Therville, E Thibaud, Marc Fellous, Ken McElreavey - Nature Genetics 1997 cited by 748