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Genomic determinants in the phenotypic variability of Down syndrome

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Published in Progress in Brain Research. 2012, vol. 197, p. 15-28
Abstract Down syndrome caused by trisomy 21 is a collection of phenotypes with variable expressivity and penetrance. The significant advances in exploring the human genome now provide the tools to better understand the contribution of trisomy 21 in the different manifestations of Down syndrome, and the functional links between the genome variability and the phenotypic variability.
Keywords Chromosomes, Human, Pair 21Down Syndrome/geneticsGenetic VariationGenomics/methodsGenotypeHumansPhenotype
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PMID: 22541286
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Article (Published version) (681 Kb) - document accessible for UNIGE members only Limited access to UNIGE
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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LETOURNEAU, Audrey, ANTONARAKIS, Stylianos. Genomic determinants in the phenotypic variability of Down syndrome. In: Progress in Brain Research, 2012, vol. 197, p. 15-28. https://archive-ouverte.unige.ch/unige:34645

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Deposited on : 2014-03-07

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