Article
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
Journal of medical genetics - 1 Jul 1999
Lam W W, Hatada I, Ohishi S, Mukai T, Joyce J A, Cole T R, Donnai D, Reik W, Schofield P N, Maher E R
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumours. BWS is genetically heterogeneous and epigenetic changes in the...
Topics
- Beckwith-Wiedemann Syndrome
- Cyclin-Dependent Kinase Inhibitor p57
- Genomic Imprinting
- Genotype
- Germ-Line Mutation
- Humans
- Nuclear Proteins
- Phenotype
- Sequence Analysis, DNA