We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Neurofibromatosis type I: genetics and clinical manifestations.
- Authors
Savar, Aaron; Cestari, Dean M
- Abstract
Neurofibromatosis type I is multisystem disorder with myriad manifestations, many of which involve the eye. Diagnostic findings include neurofibromas, lisch nodules, café-au-lait macules, freckling, optic pathway gliomas, and skeletal dysplasia. The responsible gene and its protein product, neurofibromin have been identified. Advances have been made in the understanding of the functions of neurofibromin. This has allowed better understanding of the many manifestations and will help identify potential treatments.
- Publication
Seminars in ophthalmology, 2008, Vol 23, Issue 1, p45
- ISSN
0882-0538
- Publication type
Journal Article
- DOI
10.1080/08820530701745223