UNIGE document Professional Article - Review
previous document  unige:34645  next document
add to browser collection
Title

Genomic determinants in the phenotypic variability of Down syndrome
Authors
Letourneau, Audrey
Antonarakis, Stylianos
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
Article (Published version) (681 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
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. https://archive-ouverte.unige.ch/unige:34645

230 hits

0 download

Contact an author

Update request

Update

Deposited on : 2014-03-07

Export document
Format :
Citation style :