A Novel TSC2 c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report
Y Lai, Y Ma, B Luo, Y Long - Neurology: Genetics, 2024 - AAN Enterprises
Objectives Tuberous sclerosis complex (TSC) is a genetic disorder caused by a TSC1 or
TSC2 gene variation characterized by widespread hamartomas in organs such as the skin …
TSC2 gene variation characterized by widespread hamartomas in organs such as the skin …
[HTML][HTML] 3.0 T MRI 扩散峰度成像对儿童结节性硬化症脑损伤的评价价值
王芳， 邵剑波， 彭雪华， 吴敏 - 中国中西医结合影像学杂志, 2022 - xml-data.org
目的: 探讨3.0 T MRI 扩散峰度成像(DKI) 对儿童结节性硬化症(TSC) 脑组织损伤的评价价值.
方法: 收集经临床诊断为TSC 的患儿(TSC 组) 及颅脑MRI 正常儿童(对照组) 各60 例 …
方法: 收集经临床诊断为TSC 的患儿(TSC 组) 及颅脑MRI 正常儿童(对照组) 各60 例 …