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Eur J Hum Genet. 2007 Feb;15(2):131-8. Epub 2006 Sep 6.

Neurofibromatosis 1.

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  • 1Department of Neurology, Guy's and St Thomas' Hospitals, London, UK.


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.

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