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Article

What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders.

Current opinion in genetics & development - 1 Jun 2021

Vorstman Jacob, Scherer Stephen W

Abstract excerpt

Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs and symptoms, rather than biomarkers. Clear descriptions of specific genetic etiologies have been lacking; genomic technologies, however, are rapidly changing that landscape. Notably, chromosomal microarrays-which detect gene copy number variants (CNVs)-are a recommended standard of care for neurodevelopmental disorders. As a...

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PMID: 33454514
DOI: 10.1016/j.gde.2020.12.017

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