Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
Published inJournal of medical genetics, vol. 43, no. 3, p. 266-273
Publication date2006
Abstract
Keywords
- Aneuploidy
- Diagnosis, Differential
- Humans
- In Situ Hybridization, Fluorescence
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Sequence Deletion
- Williams Syndrome/classification/diagnosis/ genetics
Affiliation entities
Citation (ISO format)
HOWALD, C. et al. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. In: Journal of medical genetics, 2006, vol. 43, n° 3, p. 266–273. doi: 10.1136/jmg.2005.034009
Main files (1)
Article
Identifiers
- PID : unige:8815
- DOI : 10.1136/jmg.2005.034009
- PMID : 15994861
Additional URL for this publicationhttp://jmg.bmj.com/content/43/3/266.full.pdf
Journal ISSN0022-2593