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Article

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

American journal of medical genetics. Part A - 1 Jul 2015

Fairbrother Laura C, Cytrynbaum Cheryl, Boutis Paula, Buiting Karin, Weksberg Rosanna, Williams Charles

Abstract excerpt

Angelman syndrome (AS) is a neurogenetic disorder causing severe to profound intellectual disability, absent or very limited speech and a high risk for seizures. AS is caused by a loss of function of the maternally-derived UBE3A allele due to one of several mechanisms including imprinting defects (ImpDs). We present a girl with AS due to a mosaic ImpD who has relatively high developmental function (VABS-II...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Child, Preschool

Share to Chromosomes, Human, Pair 15

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Source

Identifiers

PMID: 25899869
DOI: 10.1002/ajmg.a.37058

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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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