Clinical and molecular study of 320 children with marfan syndrome and related type i fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Laurence Faivre, Alice Masurel-Paulet, Gwenaelle Collod-Beroud, Bert L. Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart L. Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy J. Halliday, Christophe Beroud, Claire Bonithon-KoppMireille Claustres, Peter N. Robinson, Lesley Adés, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Catherine Boileau, Guillaume Jondeau

Research output: Contribution to journalArticlepeer-review

Abstract

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

Original languageEnglish
Pages (from-to)391-398
Number of pages8
JournalPediatrics
Volume123
Issue number1
DOIs
Publication statusPublished - Jan 2009

Keywords

  • Childhood
  • FBN1
  • International criteria
  • Marfan syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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