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Prog Brain Res. 2012;197:15-28. doi: 10.1016/B978-0-444-54299-1.00002-9.

Genomic determinants in the phenotypic variability of Down syndrome.

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Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, and iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.


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.

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