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

K.P. Hoornaert, I. Vereecke, C. Dewinter, T. Rosenberg, F.A. Beemer, J.G. Leroy, L. Bendix, E. Bjorck, M. Bonduelle, O. Boute, V. Cormier-Daire, C. De Die-Smulders, H. Dollfus, M. Elting, A. Green, V.I. Guerci, R.C.M. Hennekam, Y. Hilhorts-Hofstee, M. Holder, C. HoyngK.J. Jones, D. Josifova, I. Kaitila, S. Kjaergaard, Y.H. Kroes, K. Lagerstedt, M. Lees, M. LeMerrer, C. Magnani, C. Marcelis, L. Martorell, M. Mathieu, M. McEntagart, A. Mendicino, J. Morton, G. Orazio, V. Paquis, O. Reish, K.O.J. Simola, S.F. Smithson, K.I. Temple, E. Van Aken, Y. van Bever, J. van der Ende, J.M. van Hagen, L. Zelante, R. Zordania, A. De Paepe, B.P. Leroy, M. de Buyzere, P.J. Coucke, G.R. Mortier

Research output: Contribution to journalArticleAcademicpeer-review

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

Cite this

Hoornaert, K. P., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F. A., Leroy, J. G., ... 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