The Phenotype of Persons Having Mosaicism for Trisomy 21/Down Syndrome Reflects the Percentage of Trisomic Cells Present in Different Tissues

Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a pot...

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Autori principali: Papavassiliou, Paulie, York, Timothy P., Gursoy, Nurcan, Hill, Gloria, Nicely, Lauren Vanner, Sundaram, Usha, McClain, Allison, Aggen, Steven H., Eaves, Lindon, Riley, Brien, Jackson-Cook, Colleen
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3707311/
https://ncbi.nlm.nih.gov/pubmed/19291777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32729
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