Published 2012 | Version v1.0.0
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Carbonic Anhydrase Type II Deficiency Syndrome
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).
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2012When the item was originally created.