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Article

The neurobehavioral and molecular phenotype of Angelman Syndrome.

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

Wink Logan K, Fitzpatrick Sarah, Shaffer Rebecca, Melnyk Sophia, Begtrup Amber H, Fox Emma, Schaefer Tori L, Mathieu-Frasier Lauren, Ray Balmiki, Lahiri Debomoy, Horn Paul A, Erickson Craig A

Abstract excerpt

Angelman Syndrome (AS) is a rare neurodevelopmental disorder associated with developmental delay, speech impairment, gait ataxia, and a unique behavioral profile. AS is caused by loss of maternal expression of the paternally imprinted UBE3A gene. In this study we aim to contribute to understandin...

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PMID: 26219744
DOI: 10.1002/ajmg.a.37254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26219744-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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