Article
Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.
Genes & development - 1 Dec 1999
Caspary T, Cleary M A, Perlman E J, Zhang P, Elledge S J, Tilghman S M
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a clinically variable disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, visceromegaly, and an increased susceptibility to childhood tumors. The disease has been linked to a large cluster of imprinted genes at human chromosome 11p15.5. A subset of BWS patients has been identified with loss-of-function mutations in p57(KIP2), a maternally...
Topics
- Animals
- Beckwith-Wiedemann Syndrome
- Bone Development
- Bone and Bones
- Cleft Palate
- Female
- Fetal Death
- Fetal Proteins
- Fungal Proteins
- Genes, Lethal
- Genetic Heterogeneity
- Genomic Imprinting
- Humans
- Insulin-Like Growth Factor II