| Identifier |
20180306_nanos_posters_268 |
| Title |
Clinical and Molecular Genetic Features of Congenital Nystagmus with FRMD7 mutations |
| Creator |
Jae-Hwan Choi; Eun Hye Oh; Jae-Ho Jung; Seo Young Choi; Kwang-Dong Choi; Sang-Ho Kim; Hak-Seung Lee |
| Affiliation |
(JC) (EHO) (SYC) (KC) Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea, Republic of; (JJ) Department of Ophthalmology, Pusan National University Yangsan Hospital, Yangsan, Korea, Republic of; (SK) Department of Neurology, Dong-A University Hospital, Busan, Korea, Republic of; (HL) Department of Neurology, Wonkwang University Hospital, Iksan, Korea, Republic of |
| Subject |
Genetic Disease; Nystagmus |
| Description |
Congenital nystagmus (CN) is the involuntary oscillation of the eyes with onset in the first few months of life. CN can be an idiopathic disease (idiopathic infantile nystagmus, IIN) or can be a feature of other ocular diseases. The most common form of inheritance is Xlinked, and mutations in FRMD7 gene are a major cause. The aim of this study is to determine the clinical and molecular genetic features of CN with FRMD7 mutations. |
| Date |
2018-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2018: Poster Presentations |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6vq730d |
| Setname |
ehsl_novel_nam |
| ID |
1310599 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6vq730d |
