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Article

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.

Journal of medical genetics - 1 Feb 2016

Torres Fátima, Barbosa Mafalda, Maciel Patrícia

Abstract excerpt

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems,...

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Identifiers

PMID: 26502893
DOI: 10.1136/jmedgenet-2015-103366

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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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