X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

T.R. Webb; M. Matarin; J.C. Gardner; D. Kelberman; H. Hassan; Wei Ang; M. Michaelides; J.B. Ruddle; Craig Pennell; S. Yazar; C.C. Khor; T. Aung; M. Yogarajah; A.G. Robson; G.E. Holder; M.E. Cheetham; E.I. Traboulsi; A.T. Moore; J.C. Sowden; S.M. Sisodiya; David Mackey; S.J. Tuft; A.J. Hardcastle

doi:10.1016/j.ajhg.2011.12.019

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

T.R. Webb, M. Matarin, J.C. Gardner, D. Kelberman, H. Hassan, Wei Ang, M. Michaelides, J.B. Ruddle, Craig Pennell, S. Yazar, C.C. Khor, T. Aung, M. Yogarajah, A.G. Robson, G.E. Holder, M.E. Cheetham, E.I. Traboulsi, A.T. Moore, J.C. Sowden, S.M. SisodiyaDavid Mackey, S.J. Tuft, A.J. Hardcastle

Research output: Contribution to journal › Article › peer-review

58 Citations (Scopus)

Original language	English
Pages (from-to)	247-259
Journal	American Journal of Human Genetics
Volume	90
DOIs	https://doi.org/10.1016/j.ajhg.2011.12.019
Publication status	Published - 2012

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10.1016/j.ajhg.2011.12.019

Cite this

Webb, T. R., Matarin, M., Gardner, J. C., Kelberman, D., Hassan, H., Ang, W., Michaelides, M., Ruddle, J. B., Pennell, C., Yazar, S., Khor, C. C., Aung, T., Yogarajah, M., Robson, A. G., Holder, G. E., Cheetham, M. E., Traboulsi, E. I., Moore, A. T., Sowden, J. C., ... Hardcastle, A. J. (2012). X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. American Journal of Human Genetics, 90, 247-259. https://doi.org/10.1016/j.ajhg.2011.12.019

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title = "X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development",

author = "T.R. Webb and M. Matarin and J.C. Gardner and D. Kelberman and H. Hassan and Wei Ang and M. Michaelides and J.B. Ruddle and Craig Pennell and S. Yazar and C.C. Khor and T. Aung and M. Yogarajah and A.G. Robson and G.E. Holder and M.E. Cheetham and E.I. Traboulsi and A.T. Moore and J.C. Sowden and S.M. Sisodiya and David Mackey and S.J. Tuft and A.J. Hardcastle",

year = "2012",

doi = "10.1016/j.ajhg.2011.12.019",

language = "English",

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Webb, TR, Matarin, M, Gardner, JC, Kelberman, D, Hassan, H, Ang, W, Michaelides, M, Ruddle, JB, Pennell, C, Yazar, S, Khor, CC, Aung, T, Yogarajah, M, Robson, AG, Holder, GE, Cheetham, ME, Traboulsi, EI, Moore, AT, Sowden, JC, Sisodiya, SM, Mackey, D, Tuft, SJ & Hardcastle, AJ 2012, 'X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development', American Journal of Human Genetics, vol. 90, pp. 247-259. https://doi.org/10.1016/j.ajhg.2011.12.019

TY - JOUR

T1 - X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

AU - Webb, T.R.

AU - Matarin, M.

AU - Gardner, J.C.

AU - Kelberman, D.

AU - Hassan, H.

AU - Ang, Wei

AU - Michaelides, M.

AU - Ruddle, J.B.

AU - Pennell, Craig

AU - Yazar, S.

AU - Khor, C.C.

AU - Aung, T.

AU - Yogarajah, M.

AU - Robson, A.G.

AU - Holder, G.E.

AU - Cheetham, M.E.

AU - Traboulsi, E.I.

AU - Moore, A.T.

AU - Sowden, J.C.

AU - Sisodiya, S.M.

AU - Mackey, David

AU - Tuft, S.J.

AU - Hardcastle, A.J.

PY - 2012

Y1 - 2012

U2 - 10.1016/j.ajhg.2011.12.019

DO - 10.1016/j.ajhg.2011.12.019

M3 - Article

C2 - 22284829

SN - 0002-9297

VL - 90

SP - 247

EP - 259

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -