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Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy
PURPOSE: To report the novel causative variants in five Chinese families with familial exudative vitreoretinopathy (FEVR). METHODS: Five unrelated Chinese families diagnosed with FEVR were enrolled in this study. Ocular examinations and genetic analysis were performed on the probands and family memb...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230444/ https://www.ncbi.nlm.nih.gov/pubmed/37252707 http://dx.doi.org/10.1167/tvst.12.5.29 |