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Current publications from Polish scientific journals are available through the Library of Science: https://bibliotekanauki.pl

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  1. 1 Journal of Applied Genetics

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  1. 1 2009

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  1. 1 Erickson R. P.

  2. 1 Powis Z.

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Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

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Powis Z., Erickson R. P.
Journal of Applied Genetics
|
2009
|
vol. 50
|
issue 3
293-296
EN
Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.
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