Angelman Syndrome Due to UBE3A Gene Mutation.

Abstract

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase… (More)
DOI: 10.1007/s12098-017-2559-y

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