Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

PURPOSE: To investigate the clinical and genetic characteristics of occult macular dystrophy (OMD) based on a Chinese patient cohort. METHODS: Fifteen Chinese OMD patients from nine unrelated families underwent genetic testing, and all of them harbored a pathogenic RP1L1 variant. Comprehensive ophth...

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Bibliografiset tiedot
Julkaisussa:Invest Ophthalmol Vis Sci
Päätekijät: Wang, Dan-Dan, Gao, Feng-Juan, Li, Jian-Kang, Chen, Fang, Hu, Fang-Yuan, Xu, Ge-Zhi, Zhang, Jian-Guo, Sun, Hao-Xiang, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Association for Research in Vision and Ophthalmology 2020
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7401461/
https://ncbi.nlm.nih.gov/pubmed/32176261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.3.10
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