Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER.
Astuti D, et al. Among authors: shuib s.
Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071.
Nat Genet. 2012.
PMID: 22306653