Article

Communication skills in Angelman Syndrome: Matching phenotype to genotype

2006-01-01

Abstract excerpt

Angelman syndrome (AS) is a neurogenetic disorder caused by maternal deletions of 15q11-13 (classic deletion), paternal uniparental disomy (UPD), imprinting defects, and point mutations or small deletions in the UBE3A gene. It has been suggested that there is a correlation between the genetic mechanism and the behavioural and developmental phenotype, though there is as yet limited evidence concerning communication...

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Literature Corpus work: fec9bf73-952b-571a-af88-57bdc4e86ac3
DOI: 10.1080/14417040500459684

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