Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variants in 20 Chinese families with FEVR. METHODS: All available family members underwent detailed ophthalmological examinations...

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Detalles Bibliográficos
Autores principales: Dan, Handong, Wang, Dongdong, Huang, Zixu, Shi, Qianqian, Zheng, Miao, Xiao, Yuanyuan, Song, Zongming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915523/
https://www.ncbi.nlm.nih.gov/pubmed/35277167
http://dx.doi.org/10.1186/s12920-022-01204-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915523/
https://www.ncbi.nlm.nih.gov/pubmed/35277167
http://dx.doi.org/10.1186/s12920-022-01204-0

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