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unige:34645 
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Genomic determinants in the phenotypic variability of Down syndrome |
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| Authors | ||
| 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 21 — Down Syndrome/genetics — Genetic Variation — Genomics/methods — Genotype — Humans — Phenotype | |
| Identifiers | PMID: 22541286 | |
| Full text | ||
| Structures | ||
| Research group | Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248) | |
| Citation (ISO format) | LETOURNEAU, Audrey, ANTONARAKIS, Stylianos. Genomic determinants in the phenotypic variability of Down syndrome. In: Progress in brain research, 2012, vol. 197, p. 15-28. doi: 10.1016/B978-0-444-54299-1.00002-9 https://archive-ouverte.unige.ch/unige:34645 |
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