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Article

Understanding the basis for Down syndrome phenotypes.

PLoS genetics - 1 Mar 2006

Roper Randall J, Reeves Roger H

Abstract excerpt

Down syndrome is a collection of features that are caused by trisomy for human Chromosome 21. While elevated transcript levels of the more than 350 genes on the chromosome are primarily responsible, it is likely that multiple genetic mechanisms underlie the numerous ways in which development and function diverge in individuals with trisomy 21 compared to euploid individuals. We consider genotype-phenotype...

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Share to Chromosomes, Human, Pair 21
Share to Dosage Compensation, Genetic
Share to Down Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16596169
DOI: 10.1371/journal.pgen.0020050
PMCID: PMC1420680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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