Genotype Phenotype Relationships in Neurofibromatosis 2
Annual rept. 30 Sep 1999-29 Sep 2000
GENERAL HOSPITAL CORP BOSTON MA
Pagination or Media Count:
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.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research