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.

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Publicado
2017-03-16
Cómo citar
Callea, M., Willoughby, C. E., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A., & Bellacchio, E. (2017). A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. Investigación Clínica, 58(1). Recuperado a partir de https://www.produccioncientificaluz.org/index.php/investigacion/article/view/29043
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Reporte de Caso