[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning of...

Topics

• Genes, Neurofibromatosis 1
• Genotype
• Humans
• Mutation
• Neurofibromatosis 1
• Phenotype