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Hannover Medical School, Germany

Patients with Marfan syndrome and Loeys-Dietz syndrome show overlapping genetic profiles

Published in Pharma Investments, Ventures and Law Weekly, October 1st, 2006

Patients with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) show overlapping profiles.

According to recent research from Germany, "MFS is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems. MFS type-1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1)."

"Recently, the transforming growth factor-beta receptor-2 gene, TGFBR2, has been shown to be associated with a second type of this disorder with typically mild or absent ocular involvement (MFS type 2; MFS2). Several point mutations were found in the highly conserved serine/threonine...

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