| Identifier |
20220213_nanos_posters_117 |
| Title |
When Hit the Closed Doors, There is a Genetic Door Which Might Be Open! |
| Creator |
Kiandokht Keyhanian; Emily Place; Lucia Sobrin; Bart Chwalisz |
| Affiliation |
(KK) (EP) (LS) (BC) Mass Eye and Ear, Boston, Massachusetts |
| Subject |
Genetic Disease; Optic Neuropathy |
| Description |
Mutations in the ALPK1 gene are associated with a recently recognized autosomal dominant condition of neuro-ophthalmic interest, the ‘'ROSAH syndrome'' with clinical features of Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache. |
| Date |
2022-02 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases |
| 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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6cp9ftm |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2062792 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6cp9ftm |
