| Identifier |
20130212_nanos_posters_127 |
| Title |
Xq26.3 Microdeletion in a Male with Wildervanck Syndrome |
| Creator |
Thomas M. Bosley; Altaf Kondkar; Ibrahim A. Alorainy; Arif O. Khan; Darren T. Oystreck; Khaled K. Abu-Amero |
| Affiliation |
(TMB) (AK) (DTO) (KKA) Department of Ophthalmology, King Saud University, Riyadh, Saudi Arabia; (IAA) Department of Radiology, King Saud University, Riyadh, Saudi Arabia; (AOK) Department of Ophthalmology, King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia |
| Subject |
Wildervanck Syndrome; Duane Retraction Syndrome; Medical Genetics; Congenital Eye Movement Abnormality; Congenital Deafness |
| Description |
Wildervanck syndrome (cervico-oculo-acoustic syndrome) consists of the Klippel-Feil anomaly, Duane retraction syndrome, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluation of a male with Wildervanck syndrome and his family. |
| Date |
2013-02-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2013 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2013: 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6zk8pbv |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
183342 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6zk8pbv |
