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KIF11-related Retinopathy with Microcephaly: Two Case Reports.

作者信息

Lee Dongyoung, Hwang Sungsoon, Kim Sang Jin

机构信息

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Clinical Research Design and Evaluation, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2024 Jun;38(3):263-265. doi: 10.3341/kjo.2023.0144. Epub 2024 Apr 8.

DOI:10.3341/kjo.2023.0144
PMID:38584445
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11175977/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4245/11175977/ebf2dff81b78/kjo-2023-0144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4245/11175977/ebf2dff81b78/kjo-2023-0144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4245/11175977/ebf2dff81b78/kjo-2023-0144f1.jpg

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2
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Phenotype-Based Genetic Analysis Reveals Missing Heritability of -Related Retinopathy: Clinical and Genetic Findings.基于表型的遗传分析揭示了 - 相关视网膜病变的遗传缺失：临床和遗传发现。
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本文引用的文献

1
Update on the Phenotypic and Genotypic Spectrum of -Related Retinopathy.- 相关视网膜病变的表型和基因型谱的最新研究进展。
Genes (Basel). 2022 Apr 18;13(4):713. doi: 10.3390/genes13040713.
2
Familial exudative retinopathy positive presenting as bilateral retinal stalks: late structural and functional findings.以双侧视网膜柄表现的家族性渗出性视网膜病变阳性：晚期结构和功能发现
Am J Ophthalmol Case Rep. 2019 May 31;15:100480. doi: 10.1016/j.ajoc.2019.100480. eCollection 2019 Sep.
3
Non-canonical functions of the mitotic kinesin Eg5.有丝分裂运动蛋白 Eg5 的非典型功能。
Thorac Cancer. 2018 Aug;9(8):904-910. doi: 10.1111/1759-7714.12792. Epub 2018 Jun 21.
4
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.鉴定家族性渗出性玻璃体视网膜病变患者中的新型 KIF11 突变及表型分析。
Sci Rep. 2016 May 23;6:26564. doi: 10.1038/srep26564.
5
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.家族性渗出性玻璃体视网膜病变和微小头畸形、淋巴水肿及脉络膜视网膜发育不良与 KIF11 突变相关的表型重叠。
JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814.