Article
Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.
American journal of human genetics - 1 Aug 1997
O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B
Abstract excerpt
The Beckwith-Wiedemann syndrome (BWS) is marked by fetal organ overgrowth and conveys a predisposition to certain childhood tumors, including Wilms tumor (WT). The genetics of BWS have implicated a gene that maps to chromosome 11p15 and is paternally imprinted, and the gene encoding the cyclin-cd...
Topics
- Beckwith-Wiedemann Syndrome
- Cells, Cultured
- Child, Preschool
- Chromosomes, Human, Pair 11
- Cyclin-Dependent Kinase Inhibitor p57
- Cyclin-Dependent Kinases
- DNA Methylation
- DNA Mutational Analysis
- Dinucleoside Phosphates
- Enzyme Inhibitors
- Female
- Genes, Wilms Tumor
- Genetic Predisposition to Disease