Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

BACKGROUND: Pallister–Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary marker isochromosome 12p. Cells possessing the isochromosome 12p rapidly diminish after birth in the peripheral blood, often necessitating a skin biopsy for diagnosis. Therefore, a...

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Main Authors: Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Format: Text
Language:English
Published: John Wiley and Sons Inc. 2016
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Original Articles
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC4867559/
https://pubmed.ncbi.nlm.nih.gov/27247953
http://dx.doi.org/10.1002/mgg3.200
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https://pmc.ncbi.nlm.nih.gov/articles/PMC4867559/
https://pubmed.ncbi.nlm.nih.gov/27247953
http://dx.doi.org/10.1002/mgg3.200

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