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The tuberous sclerosis complex

被引：1246
作者：
Crino, Peter B.
Nathanson, Katherine L.
Henske, Elizabeth Petri
机构：
[1] Univ Penn, Med Ctr, Dept Neurol, Philadelphia, PA 19104 USA
[2] Univ Penn, Med Ctr, Div Med Genet, Philadelphia, PA 19104 USA
[3] Fox Chase Canc Ctr, Dept Med Oncol, Philadelphia, PA 19111 USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2006年 / 355卷 / 13期
关键词：
D O I：
10.1056/NEJMra055323
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). In this article, the current knowledge of the pathogenesis of the disease and its management are discussed. Copyright © 2006 Massachusetts Medical Society.
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页码：1345 / 1356
页数：12
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