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Angelman Syndrome
Case description
Angelman syndrome is a rare genetic condition caused by deficient gene expression of E3 ubiquitin protein ligase (also known as UBE3A) and was first described in 1965 by Dr Harry Angelman. Characteristic findings of Angelman syndrome include severe developmental delay and movement or balance disorder, usually in the form of gait ataxia and/or tremulous movement of limbs.
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