Publication
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study
L. Faivre, G. Collod-Beroud, B.L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H.C. Dietz, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P.N. Robinson, L.C. Adès, A. Biggin, B. Benetts, M. Brett, K.J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau
The American Journal of Human Genetics, September 2007, Elsevier
DOI: 10.1086/520125