X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frame...

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Main Authors: Webb, Tom R., Matarin, Mar, Gardner, Jessica C., Kelberman, Dan, Hassan, Hala, Ang, Wei, Michaelides, Michel, Ruddle, Jonathan B., Pennell, Craig E., Yazar, Seyhan, Khor, Chiea C., Aung, Tin, Yogarajah, Mahinda, Robson, Anthony G., Holder, Graham E., Cheetham, Michael E., Traboulsi, Elias I., Moore, Anthony T., Sowden, Jane C., Sisodiya, Sanjay M., Mackey, David A., Tuft, Stephen J., Hardcastle, Alison J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276677/
https://ncbi.nlm.nih.gov/pubmed/22284829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.019
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