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.

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

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.

Affiliation

Faivre L; Centre de Génétique, Centre Hospitalier Universitaire, Dijon, France. laurence.faivre@chu-dijon.fr

Am J Hum Genet ; 81(3): 454-66, 2007 Sep.

Article in En | MEDLINE | ID: mdl-17701892

Subject(s)

Marfan Syndrome/diagnosis; Microfilament Proteins/genetics; Adolescent; Adult; Epidermal Growth Factor/genetics; Exons/genetics; Female; Fibrillin-1; Fibrillins; Humans; Male; Mutation; Phenotype; Prognosis; Protein Structure, Tertiary/genetics; Severity of Illness Index; Transforming Growth Factor beta/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Marfan Syndrome / Microfilament Proteins Type of study: Clinical_trials / Prognostic_studies / Qualitative_research Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Type: Article Affiliation country: France

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