Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

PURPOSE. Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel disea...

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Publicat a:Invest Ophthalmol Vis Sci
Autors principals: Salvo, Jason, Lyubasyuk, Vera, Xu, Mingchu, Wang, Hui, Wang, Feng, Nguyen, Duy, Wang, Keqing, Luo, Hongrong, Wen, Cindy, Shi, Catherine, Lin, Danni, Zhang, Kang, Chen, Rui
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2015
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4365990/
https://ncbi.nlm.nih.gov/pubmed/25711638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-16065
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