Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

Down syndrome (DS) is characterized by extensive phenotypic variability, with most traits occurring in only a fraction of affected individuals. Substantial gene-expression variation is present among unaffected individuals, and this variation has a strong genetic component. Since DS is caused by geno...

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Autors principals: Prandini, Paola , Deutsch, Samuel , Lyle, Robert , Gagnebin, Maryline , Vivier, Celine Delucinge , Delorenzi, Mauro , Gehrig, Corinne , Descombes, Patrick , Sherman, Stephanie , Bricarelli, Franca Dagna , Baldo, Chiara , Novelli, Antonio , Dallapiccola, Bruno , Antonarakis, Stylianos E. 
Format: Artigo
Idioma:Inglês
Publicat: American Society of Human Genetics 2007
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950802/
https://ncbi.nlm.nih.gov/pubmed/17668376
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