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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.DYNC2H1 功能减弱或主要影响视网膜的变异会导致非综合征性视网膜变性。
Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5.
2
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.建立 USH2A 相关疾病的基因型-表型相关性，以实现个体化听力学监测和康复。
Otol Neurotol. 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588.
3
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.基因表达的可变性与遗传性眼病的不完全外显相关。
Genes (Basel). 2020 Feb 9;11(2):179. doi: 10.3390/genes11020179.
4
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.PRPF31 突变谱、色素性视网膜炎的基因型-表型相关性及治疗机会。
Exp Eye Res. 2020 Mar;192:107950. doi: 10.1016/j.exer.2020.107950. Epub 2020 Jan 31.
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Pathogenicity Reclasssification of Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.与莱伯先天性黑矇和早发性视网膜营养不良相关的错义变异致病性重新分类。
Genes (Basel). 2019 Dec 24;11(1):24. doi: 10.3390/genes11010024.
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Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in .探索巴基斯坦西北部视网膜疾病的遗传图谱揭示了高度的同源性和. 中的常见启动子突变。
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Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.USH2A 相关性视网膜病变患者的双重超高度荧光环。
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遗传性视网膜疾病的表型与基因型相关性：人群导向的变异解读、表现度可变和不完全外显率。

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.

机构信息

North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester M13 9WL, UK.

Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.

出版信息

Genes (Basel). 2020 Oct 29;11(11):1274. doi: 10.3390/genes11111274.

DOI:10.3390/genes11111274
PMID:33137882
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7692259/
Abstract

Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...].

摘要

遗传性视网膜疾病（IRDs）是一组多样化且多变的罕见人类疾病[...]。