Xq26.3 Microdeletion in a Male with Wildervanck Syndrome

Update item information
Identifier 20130212_nanos_posters_127
Title Xq26.3 Microdeletion in a Male with Wildervanck Syndrome
Creator Bosley, Thomas M; Kondkar, Altaf; Alorainy, Ibrahim A; Khan, Arif O; Oystreck, Darren T; Abu-Amero, Khaled K
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.
Relation is Part of NANOS 2013: Poster Presentations
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2013-02-12
Type Text
Format application/pdf
Format Creation application/pdf
Source 2013 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6zk8pbv
Setname ehsl_novel_nam
Date Created 2014-01-08
Date Modified 2021-05-06
ID 183342
Reference URL https://collections.lib.utah.edu/ark:/87278/s6zk8pbv
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