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. Hoyng; K.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

doi:10.1038/ejhg.2010.23

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 journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	872-880
Journal	European Journal of Human Genetics
Volume	18
Issue number	8
DOIs	https://doi.org/10.1038/ejhg.2010.23
Publication status	Published - 2010

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10.1038/ejhg.2010.23

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., De Die-Smulders, C., Dollfus, H., Elting, M., Green, A., Guerci, V. I., Hennekam, R. C. M., Hilhorts-Hofstee, Y., Holder, M., ... 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

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

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

year = "2010",

doi = "10.1038/ejhg.2010.23",

language = "Undefined/Unknown",

volume = "18",

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journal = "European Journal of Human Genetics",

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publisher = "Nature Publishing Group",

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Hoornaert, KP, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, FA, Leroy, JG, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, VI, Hennekam, RCM, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, KJ, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, YH, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, KOJ, Smithson, SF, Temple, KI, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, JM, Zelante, L, Zordania, R, De Paepe, A, Leroy, BP, de Buyzere, M, Coucke, PJ & Mortier, GR 2010, 'Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880. https://doi.org/10.1038/ejhg.2010.23

TY - JOUR

T1 - Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

AU - Hoornaert, K.P.

AU - Vereecke, I.

AU - Dewinter, C.

AU - Rosenberg, T.

AU - Beemer, F.A.

AU - Leroy, J.G.

AU - Bendix, L.

AU - Bjorck, E.

AU - Bonduelle, M.

AU - Boute, O.

AU - Cormier-Daire, V.

AU - De Die-Smulders, C.

AU - Dollfus, H.

AU - Elting, M.

AU - Green, A.

AU - Guerci, V.I.

AU - Hennekam, R.C.M.

AU - Hilhorts-Hofstee, Y.

AU - Holder, M.

AU - Hoyng, C.

AU - Jones, K.J.

AU - Josifova, D.

AU - Kaitila, I.

AU - Kjaergaard, S.

AU - Kroes, Y.H.

AU - Lagerstedt, K.

AU - Lees, M.

AU - LeMerrer, M.

AU - Magnani, C.

AU - Marcelis, C.

AU - Martorell, L.

AU - Mathieu, M.

AU - McEntagart, M.

AU - Mendicino, A.

AU - Morton, J.

AU - Orazio, G.

AU - Paquis, V.

AU - Reish, O.

AU - Simola, K.O.J.

AU - Smithson, S.F.

AU - Temple, K.I.

AU - Van Aken, E.

AU - van Bever, Y.

AU - van der Ende, J.

AU - van Hagen, J.M.

AU - Zelante, L.

AU - Zordania, R.

AU - De Paepe, A.

AU - Leroy, B.P.

AU - de Buyzere, M.

AU - Coucke, P.J.

AU - Mortier, G.R.

PY - 2010

Y1 - 2010

U2 - 10.1038/ejhg.2010.23

DO - 10.1038/ejhg.2010.23

M3 - Article

C2 - 20179744

VL - 18

SP - 872

EP - 880

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 8

ER -