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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...

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Detalles Bibliográficos
Autores principales: Xu, Ningda, Cai, Yi, Li, Jiarui, Tao, Tianchang, Liu, Caifei, Shen, Yan, Li, Xiaoxin, Zhang, Leiliang, Zhao, Mingwei, Shi, Xuan, Li, Jing, Huang, Lvzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
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