Article
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
American journal of human genetics - 1 Jan 1999
Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette M J, Grant J, Dennis N, Reardon W, Splitt M, Read A P, Donnai D
Abstract excerpt
In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes k...
Topics
- Adult
- Antigens, Surface
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- DNA-Binding Proteins
- Elastin
- Female
- Frizzled Receptors
- Humans
- In Situ Hybridization, Fluorescence
- Intelligence
- Lim Kinases
- Male