Publication
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
L. Faivre, A. Masurel-Paulet, G. Collod-Beroud, B. L. Callewaert, A. H. Child, C. Stheneur, C. Binquet, E. Gautier, B. Chevallier, F. Huet, B. L. Loeys, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, D. J. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, P. N. Robinson, L. Ades, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau
PEDIATRICS, January 2009, American Academy of Pediatrics (AAP)
DOI: 10.1542/peds.2008-0703