Angelman Syndrome: Identification and Management.

Abstract excerpt

Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. It is caused by various genetic mutations and deletions of the maternally-inherited UBE3A gene, on the 15q11-13 chromosomal region. The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis...

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