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Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads to abnormal development of retinal blood vessels, resulting in vision impairment. This study aims to identify pathogenic variants by targeted exome sequencing in 9 independent pedigrees with FEVR and charact...

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Detalles Bibliográficos
Autores principales:	Li, Jiayu, Wang, Chanjuan, Zhang, Shaochi, Cai, Bo, Pan, Bo, Sun, Caihong, Qi, Xiaolong, Ma, Chunmei, Fang, Wei, Jin, Kangxin, Bi, Xiaojun, Jin, Zibing, Zhuang, Wenjuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685552/ https://www.ncbi.nlm.nih.gov/pubmed/38030997 http://dx.doi.org/10.1186/s12886-023-03243-2

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