Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24–32. We previously showed that a mutation in exons 24–32 is predictive of...

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Main Authors: Faivre, L, Collod-Beroud, G, Callewaert, B, Child, A, Binquet, C, Gautier, E, Loeys, B L, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Wolf, J E, Bouchot, O, Khau-Van-Kien, P, Beroud, C, Claustres, M, Bonithon-Kopp, C, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Jondeau, G, Boileau, C
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2734964/
https://ncbi.nlm.nih.gov/pubmed/19002209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.207
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