Neurofibromatosis 1

被引：110

作者：

Ferner, Rosalie E. ^{[1
]}

机构：

[1] Guys & St Thomas Hosp, Dept Neurol, London SE1 9RT, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 02期

关键词：

neurofibromin; neurofibroma; plexiform neurofibroma; glioma; malignant peripheral nerve sheath tumour;

D O I：

10.1038/sj.ejhg.5201676

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：131 / 138

页数：8

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