Internuclear Ophthalmoplegia in a Child With Deficiency of Adenosine Deaminase 2

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Title Internuclear Ophthalmoplegia in a Child With Deficiency of Adenosine Deaminase 2
Creator Murtaza M. Mandviwala, MD; James W. Verbsky, MD; PhD; Alexander J. Khammar, MD; Ryan D. Walsh, MD
Affiliation Department of Ophthalmology and Visual Sciences (MMM, AJK, RDW), Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Rheumatology (JWV), Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Ophthalmology (AJK), Children's Hospital of Wisconsin, Milwaukee, Wisconsin; and Department of Neurology (RDW), Medical College of Wisconsin, Milwaukee, Wisconsin
Abstract Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting in a syndrome which includes small-sized and medium-sized vessel vasculitis, immunodeficiency, and hematological disease (1,2). Loss-offunction; mutations in ADA2 are responsible for the disease (1).
Subject DADA2
OCR Text Show
Date 2023-03
Date Digital 2023-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, March 2023, Volume 43, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6hma191
Setname ehsl_novel_jno
ID 2460099
Reference URL https://collections.lib.utah.edu/ark:/87278/s6hma191
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