Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien P. Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Bjorck, Maryse Bonduelle, Odile Boute, Valerie Cormier-Daire, Christine Smulders - de Die, Anne Dieux-Coeslier, Helene Dollfus, Mariet W. Elting, Andrew Green, Veronica I. Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel HolderCarel Hoyng, Kristi J. Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H. Kroes, Kristina Lagerstedt, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michele Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Veronique Paquis, Orit Reish, Kalle O. J. Simola, Sarah F. Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Zordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul J. Coucke, Geert R. Mortier

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)872-880
JournalEuropean Journal of Human Genetics
Volume18
Issue number8
DOIs
Publication statusPublished - Aug 2010

Keywords

  • COL2A1
  • Stickler syndrome
  • genotype-phenotype correlation
  • type II collagenopathies
  • splice site mutation

Cite this

Hoornaert, K. P., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F. A., Leroy, J. G., Bendix, L., Bjorck, E., Bonduelle, M., Boute, O., Cormier-Daire, V., Smulders - de Die, C., Dieux-Coeslier, A., Dollfus, H., Elting, M. W., Green, A., Guerci, V. I., Hennekam, R. C. M., Hilhorts-Hofstee, Y., ... Mortier, G. R. (2010). Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics, 18(8), 872-880. https://doi.org/10.1038/ejhg.2010.23