Article
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.
Pediatrics - 1 Jan 2009
Faivre Laurence, Masurel-Paulet Alice, Collod-Béroud Gwenaëlle, Callewaert Bert L, Child Anne H, Stheneur Chantal, Binquet Christine, Gautier Elodie, Chevallier Bertrand, Huet Frédéric, Loeys Bart L, Arbustini Eloisa, Mayer Karin, Arslan-Kirchner Mine, Kiotsekoglou Anatoli, Comeglio Paolo, Grasso Maurizia, Halliday Dorothy J, Béroud Christophe, Bonithon-Kopp Claire, Claustres Mireille, Robinson Peter N, Adès Lesley, De Backer Julie, Coucke Paul, Francke Uta, De Paepe Anne, Boileau Catherine, Jondeau Guillaume
Abstract excerpt
From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed (32%). At the time of diagnosis, the median age was 6.5 years. At the last examination, the population was classified as follows: neonatal Mar...
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