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Article

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Human mutation - 1 Jul 2015

Noor Abdul, Dupuis Lucie, Mittal Kirti, Lionel Anath C, Marshall Christian R, Scherer Stephen W, Stockley Tracy, Vincent John B, Mendoza-Londono Roberto, Stavropoulos Dimitri J

Abstract excerpt

Duplications of chromosome region 15q11-q13 with the maternal imprint are associated with a wide spectrum of neuropsychiatric disorders, including autism spectrum disorders, developmental delay, learning difficulties, schizophrenia, and seizures. These observations suggest there is a dosage-sensitive imprinted gene or genes within this region that explains the increased risk for neuropsychiatric phenotypes. We...

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PMID: 25884337
DOI: 10.1002/humu.22800

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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