Neurofibromatosis 1
- 6 September 2006
- journal article
- review article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 15 (2) , 131-138
- https://doi.org/10.1038/sj.ejhg.5201676
Abstract
Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis. Positron emission tomography has demonstrated that sophisticated imaging techniques have a role in diagnosing complex problems like malignant peripheral nerve sheath tumours, while the prospect of targeted therapies for Nf1 complications is tantalisingly close.Keywords
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