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Review
. 2012:197:15-28.
doi: 10.1016/B978-0-444-54299-1.00002-9.

Genomic determinants in the phenotypic variability of Down syndrome

Audrey Letourneau  1 , Stylianos E Antonarakis
Affiliations
Review

Genomic determinants in the phenotypic variability of Down syndrome

Audrey Letourneau et al. Prog Brain Res. 2012.

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.

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