Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenita...

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Auteurs principaux: Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Format: Artigo
Langue:Inglês
Publié: Elsevier 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169830/
https://ncbi.nlm.nih.gov/pubmed/21907015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.08.005
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