| 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 |
| 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 |
