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结节性硬化症复合体

Tuberous sclerosis complex.

作者信息

Sparagana S P, Roach E S

机构信息

Texas Scottish Rite Hospital for Children and University of Texas Southwestern Medical School, Dallas 75219, USA.

出版信息

Curr Opin Neurol. 2000 Apr;13(2):115-9. doi: 10.1097/00019052-200004000-00001.

Abstract

Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly identical phenotypes, and great progress has been made towards understanding how each of these genes functions. The recognition of tuberous sclerosis complex improved with revised diagnostic criteria, and the management of many of the complications of tuberous sclerosis complex has improved.

摘要

结节性硬化症是一种常染色体显性疾病,可在多个器官系统引发严重并发症。近年来,关于结节性硬化症的基础科学和临床研究蓬勃发展,增进了我们对其分子遗传学和病理生理学的理解。两个结节性硬化症基因会导致几乎相同的表型,在了解这些基因各自的功能方面已取得了重大进展。随着诊断标准的修订,结节性硬化症的识别率有所提高,并且结节性硬化症许多并发症的管理也得到了改善。

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