Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?
| Title | Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants? |
| Creator | Jason A. Zehden; Subahari Raviskanthan; Peter W. Mortensen; Marc Ferré; Pascal Reynier; Dan Milea; Andrew G. Lee |
| Affiliation | Baylor College of Medicine (JZ), Houston, Texas, US; Department of Ophthalmology (SR, PWM, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; MITOVASC Institute (MF, PR, DM), CNRS 6015, INSERM U1083, University of Angers, France; Singapore National Eye Center (DM), Singapore, Singapore; Singapore Eye Research Institute (DM), Singapore, Singapore; Duke-NUS Medical School (DM), Singapore, Singapore; Copenhagen University Hospital Denmark (DM), Copenhagen, Denmark; Departments of Ophthalmology (AGL), Neurology, and Neurosurgery, Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa |
| Subject | Mutation Optic Atrophy; Autosomal Dominant Optic Atrophy; Pedigree Virulence |
| Date | 2022-06 |
| Language | eng |
| Format | application/pdf |
| Type | Text |
| Publication Type | Journal Article |
| Source | Journal of Neuro-Ophthalmology, June 2023, Volume 43, Issue 2 |
| Collection | Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher | Lippincott, Williams & Wilkins |
| Holding Institution | Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management | © North American Neuro-Ophthalmology Society |
| ARK | ark:/87278/s66ykjpa |
| Setname | ehsl_novel_jno |
| ID | 2307880 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s66ykjpa |