An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Elisabeth Gillis, Marlies Kempers, Simone Salemink, Janneke Timmermans, Emile C. Cheriex, Sebastiaan C. A. M. Bekkers, Erik Fransen, Christine E. M. De Die-Smulders, Bart L. Loeys*, Lut Van Laer

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

23 Citations (Web of Science)
Original languageEnglish
Pages (from-to)571-574
JournalHuman Mutation
Issue number5
Publication statusPublished - May 2014


  • Marfan syndrome
  • deep intronic mutation
  • FBN1
  • pseudo-exon

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