Neurofibromatosis

Journal:
European Journal of Human Genetics

Author:
Rosalie E Ferner

Affiliation:
Department of Neurology, Guy's and St Thomas' Hospitals, London, UK

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.

Correspondence:
Dr. R. E. Ferner, Department of Neurology, Guy's and St Thomas' Hospitals, London SE1 9RT, UK.
E-mail: rosalie.ferner@kcl.ac.uk

Abstract available online.

(C) European Journal of Human Genetics.

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