Publication
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, B L Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, J E Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, G Jondeau, C Boileau
European Journal of Human Genetics, November 2008, Springer Science + Business Media
DOI: 10.1038/ejhg.2008.207