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Article

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

European journal of human genetics : EJHG - 1 Dec 2004

Varela Monica Castro, Kok Fernando, Otto Paulo Alberto, Koiffmann Celia Priszkulnik

Abstract excerpt

Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. Here, we describe the phenotypic and behavioral variability detected in 49 patients with different classes of deletions and nine patients with UPD. Diagnosis was made by methylation pattern analysis of exon 1 of the SNRPN-SNURF gene and by microsatellite profiling of loci...

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Source

Identifiers

PMID: 15470370
DOI: 10.1038/sj.ejhg.5201264

Genes

NIPA1
NIPA2
SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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