A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

BACKGROUND: Leber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear, and the majority of cases are caused by au...

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Detalles Bibliográficos
Autores principales: Duan, Wenhua, Zhou, Taicheng, Jiang, Huawei, Zhang, Minhui, Hu, Min, Zhang, Liwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482190/
https://www.ncbi.nlm.nih.gov/pubmed/36115989
http://dx.doi.org/10.1186/s12920-022-01356-z

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