A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

• Michele Callea Unit of Dentistry, Bambino Ges í¹ Children”™s Hospital - IRCCS, Rome, Italy
• Colin Eric Willoughby University of Liverpool, Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Liverpool, UK.
• Francisco Camarata-Scalisi University of The Andes. Mérida, Venezuela.
• Isabella Giovannoni Bambino Ges í¹ Children”™s Hospital IRCCS, Research Laboratory, Rome, Italy.
• Agatino Vinciguerra Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”- Trieste, Italy.
• Izzet Yavuz Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey
• Mariateresa Di Stazio University of Trieste, Department of Medical, Surgical and Health Sciences, Trieste, Italy.
• Enzo Di Iorio Department of Molecular Medicine, University of Padova, Padova, Italy.
• Gabriella Clarich Department of Molecular Medicine, University of Padova, Padova, Italy.
• Alessandra Benettoni Department of Molecular Medicine, University of Padova, Padova, Italy.
• Angela Galeotti Department of Molecular Medicine, University of Padova, Padova, Italy.
• Emanuele Bellacchio Department of Molecular Medicine, University of Padova, Padova, Italy.

Abstract

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