Article
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
American journal of medical genetics - 23 Jan 1998
Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D
Abstract excerpt
Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was r...
Topics
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Female
- Humans
- Male
- Neurofibromatosis 1
- Noonan Syndrome
- Pedigree
- Phenotype
- Point Mutation
- Sequence Deletion