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Article

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

American journal of medical genetics. Part A - 15 Jul 2004

Peters Sarika U, Goddard-Finegold Jan, Beaudet Arthur L, Madduri Niru, Turcich Marie, Bacino Carlos A

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E6-AP ubiquitin-protein ligase. Expression of the UBE3A gene from the maternal chromosome is essential to prevent AS. AS is characterized by severe mental retardation, ataxia, and a defined behavioral pattern characterized mainly by happy/sociable disposition. This study used the Bayley Scales of...

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Identifiers

PMID: 15213998
DOI: 10.1002/ajmg.a.30065

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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