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Pediatric Neurology Briefs: Volume 26, Issue 01 |
Carbonic Anhydrase Type II Deficiency Syndrome Open Access (recommended)
Descriptions
- Resource type(s)
- Article
- Keyword
- Neuroimaging Studies
Carbonic Anhydrase
- Rights
- Attribution 4.0 International
- Creator
-
Millichap, J. Gordon
- Abstract
-
Researchers at King Saud University, Saudi Arabia and other centers describe the neurological, neuro-ophthalmological and neuroradiological features of 23 patients (10 male, 13 female; age at final exam 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous mutation (the Arabic mutation).
- Publisher
-
DigitalHub. Galter Health Sciences Library
Pediatric Neurology Briefs Publishers
- Date Created
-
2012
- Original Identifier
- PNB-2012-26-1-8
- Language
- English
- Subject: MESH
-
Child Development
Nervous System Diseases
Child
Infant
Neurosurgery
Brain Diseases
Pediatrics
Neurology
- DOI
-
10.15844/pedneurbriefs-26-1-8
File Details
- File Properties
-
Mime type: application/pdf
File size: 94.8 kB