논문KCI 등재
KIF11-related Retinopathy with Microcephaly: Two Case Reports
0
조회
0
다운로드
0
인용
0
참고문헌
주제분류안과학
참고문헌 (5)
- Liu M, "Non-canonical functions of the mitotic kinesin Eg5", Thorac Cancer, 9, pp.904~910 (2018)
- Wang Y, "Update on the phenotypic and genotypic spectrum of KIF11-related retinopathy", Genes(Basel), 13, pp.713~ (2022)
- Li JK, "Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis", Sci Rep, 6, pp.26564~ (2016)
- Robitaille JM, "Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations", JAMA Ophthalmol, 132, pp.1393~1399 (2014)
- Amorelli GM, "Familial exudative retinopathy TSPAN12 positive presenting as bilateral retinal stalks : late structural and functional findings", Am J Ophthalmol Case Rep, 15, pp.100480~ (2019)
관련 논문AI추천
Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet–Biedl Syndrome with Rod-Cone Dystrophy: A Case ReportHan Jo Kwon, Iksoo Byon, Jun Heo, Sung Who Park, Young Hwan Jeong대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제6호소두증, 림프부종 및 맥락망 형성이상을 동반한 한국인에서 확인된 KIF11변이 증례보고Hong Youn-Ji, Jang Mi-Ae, Kim Jong-Won, Lee Jeehun, Lee Jiwon대한진단검사의학회 · Laboratory Medicine Online2025 · 제15권 제2호Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case ReportDongheon Surl, Jinu Han, Minha Kim, Yuri Seo대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제6호Severe Phenotypic Presentation of RPGR -associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case ReportsHansol Park, Sang Jin Kim, Sungsoon Hwang대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제2호PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)기창석, 기창원, 박종은, 이은정대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제3호Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case ReportJaehwan Choi, Ja-Hyun Jang, Sang Jin Kim, Sungsoon Hwang대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제4호
이 간행물의 다른 논문 (13건)
Visual Outcome of Nontraumatic Dense Vitreous Hemorrhage in Patients without Diabetes: A Single-Center Case SeriesYuri Lee, Jae Suk Kimpp. 179-184Efficacy of Brolucizumab in Polyp Regression of Treatment-Naive Polypoidal Choroidal Vasculopathy and Its Effect on 1-Year Treatment OutcomeJung Woo Han, Seung Hun Lee, Hyo Song Parkpp. 185-193Self-Reported Findings of the Korean Intermittent Exotropia Multicenter Study Questionnaire신선영, 임기환, Haeng-Jin Lee, Hee Kyung Yang, Hyo Jung Gye, So Young Kim, 박신혜, 김숙영pp. 194-202Ischemic and Inflammatory Ocular Adverse Events Following Different Types of Vaccination for COVID-19 and Their Incidence AnalysisKibum Lee, Kyung Tae Kim, Eoi Jong Seo, Moon Sun Jung, Mi Young Choipp. 203-211Clinical Outcomes of a New Hydrophobic Trifocal Intraocular Lens with Hydroxyethyl Methacrylate in Cataract Surgery: A Prospective Multicenter StudyBokyung Kim, 김태임, 최철영, Mee Kum Kim, Eunhui Jopp. 212-220
