Article
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
American journal of human genetics - 1 Mar 1994
Kayes L M, Burke W, Riccardi V M, Bennett R, Ehrlich P, Rubenstein A, Stephens K
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by marked variation in clinical severity. To investigate the contribution to variability by genes either contiguous to or contained within the NF1 gene, we screened six NF1 patients with mild facial dysmorphology, ment...
Topics
- Adolescent
- Adult
- Alleles
- Animals
- Base Sequence
- Child, Preschool
- Chromosomes, Human, Pair 17
- Cricetinae
- Exons
- Female
- Gene Deletion
- Genes, Neurofibromatosis 1
- Humans
- Hybrid Cells
- Male
- Molecular Sequence Data
- Neurofibromatosis 1
- Phenotype