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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

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Mime type: application/pdf
File size: 94.8 kB