Article
Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling.
Combinatorial chemistry & high throughput screening - 1 Jan 2019
Yin Jie, Qin Zhongping, Wu Kai, Zhu Yufei, Hu Landian, Kong Xiangyin
Abstract excerpt
BACKGROUND AND OBJECTIVE: Blue rubber bleb nevus syndrome (BRBN) or Bean syndrome is a rare Venous Malformation (VM)-associated disorder, which mostly affects the skin and gastrointestinal tract in early childhood. Somatic mutations in TEK have been identified from BRBN patients; however, the etiology of TEK mutation-negative patients of BRBN need further investigation. METHODS: Two unrelated sporadic BRBNs and...
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