Article
[Molecular genetic diagnosis of neurofibromatosis type I].
Orvosi hetilap - 13 Mar 2011
Polgár Noémi, Komlósi Katalin, Hadzsiev Kinga, Illés Tamás, Melegh Béla
Abstract excerpt
UNLABELLED: Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50%...
Topics
- Adult
- Aged
- Codon, Nonsense
- Female
- Gene Deletion
- Genes, Neurofibromatosis 1
- Genetic Testing
- Humans
- Male
- Middle Aged
- Mutagenesis, Insertional
- Mutation
- Mutation, Missense
- Neurofibromatosis 1
- Neurofibromin 1
- Pedigree
- Sequence Analysis, DNA