Article
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?
Journal of medical genetics - 1 Mar 1992
Stern H J, Saal H M, Lee J S, Fain P R, Goldgar D E, Rosenbaum K N, Barker D F
Abstract excerpt
Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjec...
Topics
- Adult
- Aged
- Child
- Child, Preschool
- Chromosomes, Human, Pair 17
- DNA Probes
- Female
- Genes, Neurofibromatosis 1
- Genetic Linkage
- Genetic Variation
- Humans
- Infant
- Male
- Neurofibromatosis 1
- Noonan Syndrome
- Pedigree
- Polymorphism, Restriction Fragment Length