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An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis
Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder characterized by incomplete development of the retinal vasculature, which thereby affects retinal angiogenesis. But the genetic factors contributing to FEVR’s development or pathogenesis remain elusive. In a Chinese fam...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10322688/ https://www.ncbi.nlm.nih.gov/pubmed/37053012 http://dx.doi.org/10.1172/jci.insight.167032 |