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Article

Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2016

Chen Hsin-I, Chien Yi-Ling, Liao Hsio-Mei, Chien Wei-Hsien, Chen Chia-Hsiang, Chen Yu-Chieh, Gau Susan Shur-Fen

Abstract excerpt

Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear. This work presents the genetic, clinical, and brain structural data of two men out of 335 probands with autistic spectrum disorder (ASD) who had different CNV dosages at 22q11.2, and...

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Identifiers

PMID: 27026301
DOI: 10.1016/j.jfma.2016.02.005

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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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