A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding eye disease with abnormal retinal vascular development. We aim to broaden the variant spectrum of FEVR and provide a basis for molecular diagnosis and genetic consultation. METHODS: We recruited five FEVR patients from...

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Detalles Bibliográficos
Autores principales: Peng, Li, Dai, Erkuan, Xiao, Haodong, Zhao, Rulian, He, Yunqi, Li, Shujin, Yang, Mu, Yang, Zhenglin, Zhao, Peiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184668/
https://www.ncbi.nlm.nih.gov/pubmed/35417085
http://dx.doi.org/10.1002/mgg3.1949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184668/
https://www.ncbi.nlm.nih.gov/pubmed/35417085
http://dx.doi.org/10.1002/mgg3.1949

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