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Article

Aneuploidy: from a physiological mechanism of variance to Down syndrome.

Physiological reviews - 1 Jul 2009

Dierssen Mara, Herault Yann, Estivill Xavier

Abstract excerpt

Quantitative differences in gene expression emerge as a significant source of variation in natural populations, representing an important substrate for evolution and accounting for a considerable fraction of phenotypic diversity. However, perturbation of gene expression is also the main factor in determining the molecular pathogenesis of numerous aneuploid disorders. In this review, we focus on Down syndrome (DS)...

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PMID: 19584316
DOI: 10.1152/physrev.00032.2007

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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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