A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna De Burca, Anne Destree, Sixto Garcia-Minaur, Andrew J. Green, Bernadette C. Hanna, Kathelijn Keymolen, Marije Koopmans, Damien Lederer, Melissa Lees, Cheryl Longman, Sally Ann LynchAlison M. Male, Fiona McKenzie, Isabelle Migeotte, Ercan Mihci, Banu Nur, Florence Petit, Juliette Piard, Frank S. Plasschaert, Anita Rauch, Pascale Ribai, Iratxe Salcedo Pacheco, Franco Stanzial, Irene Stolte-Dijkstra, Irene Valenzuela, Vinod Varghese, Pradeep C. Vasudevan, Emma Wakeling, Carina Wallgren-Pettersson, Paul Coucke, Anne De Paepe, Daniel De Wolf, Sofie Symoens, Bert Callewaert

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
JournalGenetics In medicine
Volume22
Issue number1
Pages (from-to)124-131
Number of pages8
ISSN1098-3600
DOIs
Publication statusPublished - Jan 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • congenital contractural arachnodactyly
  • Beals syndrome
  • fibrillin-2
  • clinical score
  • diagnostic criteria
  • MARFAN-SYNDROME
  • FBN2 MUTATIONS
  • FIBRILLIN
  • PATHOGENESIS
  • PROBANDS
  • DELINEATION
  • DILATATION
  • DISORDER
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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