Genotype Phenotype Relationships in Neurofibromatosis 2
Abstract
Neurofibromatosis 2 is a genetic disorder characterized by the development of benign nervous system tumors which shows great phenotypic homogeneity within families. The hypothesis of this study is that there is a correlation between the highly variable phenotype of NF 2 and the causative genotype. Progress over the last 3 years has included: (1) development of a database, and clinical consortium; (2) definition of pediatric and spinal cord phenotypic subtypes; (3) validation of exon scanning methods and development of alternative mutation detection methods; (4) documentation of the effect of parental origin on severity; and (5) exploration of allelic imbalance as a rapid diagnostic tool.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2000
- Accession Number
- ADB270818
Entities
People
- Mia M. Maccollin