Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Ítems similars

• Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
  per: Arslan-Kirchner, Mine, et al.
  Publicat: (2011)
• Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
  per: Arslan-Kirchner, Mine, et al.
  Publicat: (2016)
• Marfan syndrome in the third Millennium
  per: Collod-Béroud, Gwenaëlle, et al.
  Publicat: (2002)
• Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
  per: Collod-Béroud, G, et al.
  Publicat: (1999)
• 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
  per: Faivre, L. , et al.
  Publicat: (2007)