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Article

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Journal of medical genetics - 1 Dec 2001

Lossie A C, Whitney M M, Amidon D, Dong H J, Chen P, Theriaque D, Hutson A, Nicholls R D, Zori R T, Williams C A, Driscoll D J

Abstract excerpt

BACKGROUND: Angelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted domain located on 15q11-q13. Most patients acquire AS by one of five mechanisms: (1) a large interstitial deletion of 15q11-q13; (2) paternal uniparental disomy (UPD) of chromosome 15; (3) an imprinting defect (ID); (4) a mutation in the E3 ubiquitin protein ligase gene (UBE3A); or (5)...

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Identifiers

PMID: 11748306
DOI: 10.1136/jmg.38.12.834
PMCID: PMC1734773

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Source receipt: pubmed, retrieved 7 Sept 2026.

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