Article
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
Clinical genetics - 1 Jun 2011
Sheikhzadeh S, Rybczynski M, Habermann C R, Bernhardt A M J, Arslan-Kirchner M, Keyser B, Kaemmerer H, Mir T S, Staebler A, Oezdal N, Robinson P N, Berger J, Meinertz T, von Kodolitsch Y
Abstract excerpt
Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.