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Usher Syndrome.尤塞氏综合征
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Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.台湾遗传性视网膜变性的遗传特征与流行病学
NPJ Genom Med. 2021 Feb 19;6(1):16. doi: 10.1038/s41525-021-00180-1.
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Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13.
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Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.法国视网膜色素变性队列中 CLN3 致病性变异导致的孤立性视网膜变性患者的视网膜表型。
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.西班牙 6089 例遗传性视网膜营养不良患者的遗传景观及其治疗和扩展的流行病学意义。
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The genetics of rod-cone dystrophy in Arab countries: a systematic review.阿拉伯国家的 rods-cone dystrophy 遗传学：系统评价。
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.144个巴基斯坦近亲家庭中常染色体隐性视网膜营养不良的纯合性定位与遗传分析
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Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives.

作者信息

El Shamieh Said, Maltese Paolo Enrico

机构信息

Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

Magi's Lab SRL, Rovereto, Italy.

出版信息

Front Genet. 2022 Aug 23;13:990782. doi: 10.3389/fgene.2022.990782. eCollection 2022.

DOI:10.3389/fgene.2022.990782
PMID:36081992
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9445133/
Abstract
摘要