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 NF2 and the causative genotype. Progress over the last 4 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; 5)exploration of allelic imbalance as a rapid diagnostic tool.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2001
- Accession Number
- ADB283748
Entities
People
- Mia M. Maccollin