Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth

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• 作者：David Jenkins ; Catherine McCuaig ; Beth A. Drolet ; Dawn Siegel ; Susan Adams ; John A. Lawson and Orli Wargon
• 刊名：Pediatric Dermatology
• 出版年：2016
• 出版时间：September/October 2016
• 年：2016
• 卷：33
• 期：5
• 页码：536-542
• 全文大小：369K
• ISSN：1525-1470

文摘

Dysregulation of the mammalian target of rapamycin pathway is the underlying pathogenic mechanism in tuberous sclerosis complex (TSC). Other syndromes caused by genetic alterations in this pathway frequently manifest as vascular anomalies or asymmetric overgrowth. Rarely, these features have been documented in TSC.