Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review

Abstract excerpt

Blue Rubber Bleb Nevus Syndrome (BRBNS) (OMIM %112200), or Bean syndrome, is an infrequent disorder characterized by venous malformations (VaMs) involving various organs such as the skin and gastrointestinal tract. Genetic mutations that affect the proliferation, migration, adhesion, differentiation, and survival of endothelial cells and the integrity of the extracellular matrix may be the pathogenesis of these...

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