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pubmed-article:17166870pubmed:abstractTextSystemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.lld:pubmed
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pubmed-article:17166870pubmed:affiliationRené Descartes University, Medical Faculty, Rheumatology A Department, Cochin Hospital, AP-HP, Paris, France.lld:pubmed
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