TY - GEN AU - Astuti,Dewi AU - Morris,Mark R AU - Cooper,Wendy N AU - Staals,Raymond H J AU - Wake,Naomi C AU - Fews,Graham A AU - Gill,Harmeet AU - Gentle,Dean AU - Shuib,Salwati AU - Ricketts,Christopher J AU - Cole,Trevor AU - van Essen,Anthonie J AU - van Lingen,Richard A AU - Neri,Giovanni AU - Opitz,John M AU - Rump,Patrick AU - Stolte-Dijkstra,Irene AU - Müller,Ferenc AU - Pruijn,Ger J M AU - Latif,Farida AU - Maher,Eamonn R TI - Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility SN - 1546-1718 PY - 2012///0420 KW - Adolescent KW - Base Sequence KW - Cell Division KW - genetics KW - Cell Proliferation KW - Child, Preschool KW - Chromosomes, Human, Pair 2 KW - Exoribonucleases KW - Fetal Macrosomia KW - Gene Expression Regulation KW - Gene Knockdown Techniques KW - Genes, cdc KW - Genetic Predisposition to Disease KW - Germ-Line Mutation KW - HeLa Cells KW - Humans KW - Infant KW - Infant, Newborn KW - Kidney Neoplasms KW - Molecular Sequence Data KW - RNA KW - metabolism KW - Sequence Analysis, DNA KW - Wilms Tumor N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1038/ng.1071 ER -