导致遗传性视网膜疾病的C21orf2变异：我们所了解的情况综述及两例新疑似病例报告
C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.
作者信息
Shinbashi Meagan, Jewell Ann, Randolph Jessica, Couser Natario
机构信息
Virginia Commonwealth University School of Medicine Virginia Richmond USA.
Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Virginia Richmond USA.
出版信息
Clin Case Rep. 2023 Mar 19;11(3):e7110. doi: 10.1002/ccr3.7110. eCollection 2023 Mar.
Abstract
Variants in the () gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases of variant-associated retinopathies and present two new suspected cases.
摘要
（）基因的变异最近被发现与色素性视网膜炎的发生有关，色素性视网膜炎是一种以视网膜退化为特征的遗传性疾病。在本文中，我们描述了34例先前报道的与该基因变异相关的视网膜病变病例，并介绍了两例新的疑似病例。
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