Article
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
American journal of medical genetics. Part A - 1 May 2009
Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys B L, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf J E, Robinson P N, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
Abstract excerpt
Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical"...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.