Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

✍ Scribed by L. Faivre; G. Collod-Beroud; B. Callewaert; A. Child; B.L. Loeys; C. Binquet; E. Gautier; E. Arbustini; K. Mayer; M. Arslan-Kirchner; A. Kiotsekoglou; P. Comeglio; M. Grasso; C. Beroud; C. Bonithon-Kopp; M. Claustres; C. Stheneur; O. Bouchot; J.E. Wolf; P.N. Robinson; L. Adès; J. De Backer; P. Coucke; U. Francke; A. De Paepe; C. Boileau; G. Jondeau

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 168 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32809