Clinical and Molecular Genetic Features of Congenital Nystagmus with FRMD7 mutations

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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
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
Source 2018 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2018: Poster Presentations
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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6vq730d
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Jae-Hwan Choi
Contributor Secondary Eun Hye Oh, Jae-Ho Jung, Seo Young Choi, Kwang-Dong Choi, Sang-Ho Kim, Hak-Seung Lee
Setname ehsl_novel_nam
ID 1310599
Reference URL https://collections.lib.utah.edu/ark:/87278/s6vq730d
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