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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4867559/ https://ncbi.nlm.nih.gov/pubmed/27247953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.200 |
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