Neurofibromatosis 1

被引:75
作者
Lynch, TM
Gutmann, DH
机构
[1] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
[2] St Louis Childrens Hosp, Neurofibromatosis Program, St Louis, MO 63110 USA
关键词
D O I
10.1016/S0733-8619(01)00019-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
This article discusses Neurofibromatosis 1, a common autosomal dominant syndrome in which affected individuals develop benign and malignant tumors of the nervous system. In addition, learning disabilities, cerebrovascular complications, seizures and headaches are also seen. The NF1 gene codes for the neurofibromin protein functions in part as a negative regulator of RAS. Future tailored therapies for NF1 may derive from targeted inhibition of RAS signaling.
引用
收藏
页码:841 / +
页数:26
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