Article
Do NF1 gene deletions result in a characteristic phenotype?
American journal of medical genetics - 28 Nov 1997
Tonsgard J H, Yelavarthi K K, Cushner S, Short M P, Lindgren V
Abstract excerpt
Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked variability of expression. Analysis of the NF1 gene (NF1) has detected a variety of mutations without any clear correlation with phenotype. However, deletions which remove all of NF1 have been reported in a small number of pa...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Gene Deletion
- Humans
- Middle Aged
- Neurofibromatosis 1
- Neurofibromin 1
- Phenotype
- Proteins