Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Documenti analoghi

• Software and database for the analysis of mutations in the human FBN1 gene.
  di: Collod, G, et al.
  Pubblicazione: (1996)
• Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
  di: Arnaud, Pauline, et al.
  Pubblicazione: (2021)
• Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
  di: Collod-Béroud, G, et al.
  Pubblicazione: (1997)
• Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
  di: Arslan-Kirchner, Mine, et al.
  Pubblicazione: (2010)
• Marfan syndrome in the third Millennium
  di: Collod-Béroud, Gwenaëlle, et al.
  Pubblicazione: (2002)