| Identifier |
20200308_nanos_posters_050 |
| Title |
Novel OPA3 Mutation in an Afghani Family with 3-Methylglutaconic Aciduria Type III and Optic Atrophy |
| Creator |
Eric D. Gaier, Inderneel Sahai, Janey Wiggs, Brian McGeeney, Jodi Hoffman, Crandall Peeler |
| Subject |
Optic neuropathy, Genetic disease |
| Description |
To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy. |
| Date |
2020-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s67t2xfq |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Eric D. Gaier |
| Contributor Secondary |
Inderneel Sahai, Janey Wiggs, Brian McGeeney, Jodi Hoffman, Crandall Peeler |
| Setname |
ehsl_novel_nam |
| ID |
1539280 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s67t2xfq |
