Segmental neurofibromatosis type 1 complicated with multiple intracranial arteriovenous fistulas: A case study.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mosaicism
• Share to Mutation
• Share to Neurofibromatoses