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

• 主要な著者: Wenhua Duan (著者), Taicheng Zhou (著者), Huawei Jiang (著者), Minhui Zhang (著者), Min Hu (著者), Liwei Zhang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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...