Publication
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
L. Faivre, G. Collod‐Beroud, B. Callewaert, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan‐Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, C. Beroud, C. Bonithon‐Kopp, M. Claustres, C. Stheneur, O. Bouchot, J.E. Wolf, P.N. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau
American Journal of Medical Genetics Part A, April 2009, Wiley
DOI: 10.1002/ajmg.a.32809