Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
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| Title: | Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia. |
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| Authors: | Seo Y; Department of Ophthalmology, Institute of Vision Research, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea., Lim HT; Seoul Orthopia Eye Clinic, Seoul, South Korea., Lee BJ; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea., Han J; Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 582-585. Date of Electronic Publication: 2022 Nov 11. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63037 |
