Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Astuti, Dewi

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. [electronic resource] - Nature genetics Feb 2012 - 277-84 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.1071 doi


Adolescent
Base Sequence
Cell Division--genetics
Cell Proliferation
Child, Preschool
Chromosomes, Human, Pair 2--genetics
Exoribonucleases--genetics
Fetal Macrosomia--genetics
Gene Expression Regulation--genetics
Gene Knockdown Techniques
Genes, cdc--genetics
Genetic Predisposition to Disease--genetics
Germ-Line Mutation--genetics
HeLa Cells
Humans
Infant
Infant, Newborn
Kidney Neoplasms--genetics
Molecular Sequence Data
RNA--metabolism
Sequence Analysis, DNA
Wilms Tumor--genetics