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Ophthalmic Genetics Volume 41, 2020 - Issue 1
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Letters to the Journal

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

Takaaki Hayashia Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan;b Department of Ophthalmology, Katsushika Medical Center, the Jikei University School of Medicine, Tokyo, JapanCorrespondence[email protected]
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Satoshi Katagiria Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, JapanView further author information
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Kei Mizobuchia Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, JapanView further author information
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Kazutoshi Yoshitakec Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, JapanView further author information
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Shuhei Kameyad Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, JapanView further author information
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Tomokazu Matsuurae Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, JapanView further author information
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Takeshi Iwatac Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, JapanView further author information
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Tadashi Nakanoa Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, JapanView further author information
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Pages 93-95 | Published online: 10 Feb 2020
 
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Author contributions

All authors contributed to data analysis and the drafting of this article, and agree to be accountable for all aspects of the study.

Acknowledgments

The authors wish to thank Ritsuko Nakayama for her assistance with genetic analyses.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by grants from the Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (17K11434 and 17K11441), and a Japanese Retinitis Pigmentosa Society (JRPS) Research Grant.

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