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Article

Atypical cases of Angelman syndrome.

American journal of medical genetics. Part A - 1 Nov 2006

Lawson-Yuen Amy, Wu Bai-Lin, Lip Va, Sahoo Trilochan, Kimonis Virginia

Abstract excerpt

Angelman syndrome (AS) is a profound disorder notable for mental retardation and severe language deficits that results from lack of function of the maternally inherited copy of the UBE3A gene. Chromosome deletions of 15q11q13, paternal uniparental disomy (UPD), UBE3A gene mutations, and imprinting center defects are all commonly recognized mechanisms that disrupt the function of the maternal copy of the UBE3A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17036311
DOI: 10.1002/ajmg.a.31481

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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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