Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
Saved in:
| Title: | Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss. |
|---|---|
| Authors: | Lee NS; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia., Fraser CL; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia.; Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Ahmad K; Department of Neurology, Royal North Shore Hospital, Sydney, Australia. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Apr 09, pp. 1-4. Date of Electronic Publication: 2026 Apr 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1744-5094 |
|---|---|
| DOI: | 10.1080/13816810.2026.2655887 |
