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

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset and the wide range of severity of aortic features. The factors that modulate phenotypical severity, both am...

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Κύριοι συγγραφείς: Faivre, L. , Collod-Beroud, G. , Loeys, B. L. , Child, A. , Binquet, C. , Gautier, E. , Callewaert, B. , Arbustini, E. , Mayer, K. , Arslan-Kirchner, M. , Kiotsekoglou, A. , Comeglio, P. , Marziliano, N. , Dietz, H. C. , Halliday, D. , Beroud, C. , Bonithon-Kopp, C. , Claustres, M. , Muti, C. , Plauchu, H. , Robinson, P. N. , Adès, L. C. , Biggin, A. , Benetts, B. , Brett, M. , Holman, K. J. , De Backer, J. , Coucke, P. , Francke, U. , De Paepe, A. , Jondeau, G. , Boileau, C. 
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2007
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950837/
https://ncbi.nlm.nih.gov/pubmed/17701892
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