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Article

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting

12 May 2008

Abstract excerpt

Beckwith Wiedemann syndrome (BWS) and Russell Silver syndrome (RS) are growth disorders with opposing epimutations affecting the H19/IGF2 imprinting center at 11p15.5. Overgrowth and tumor risk in BWS is caused by aberrant expression of the paternally expressed, imprinted IGF2 gene, occurring as a consequence of mosaic hypermethylation within the imprinting center, or to mosaic paternal uniparental disomy (UPD)....

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Share to Epigenetics and DNA Methylation
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PMID: 18473334
DOI: 10.1002/humu.20779

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