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Analysis reveals differences in methylation patterns related to OBS abnormalities in Beckwith-Wiedemann syndrome patients, suggesting specific genetic examination recommendations.
Because 28.6% of sporadic patients had OBS abnormalities, genetic examination for OBS should be considered in BWS patients with hypermethylated H19-DMR. LRS analysis for the H19-DMR revealed differences in methylation patterns between patients with and without OBS abnormalities and the methylation levels of each CpG between mothers and their offspring in families with OBS abnormalities.
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Masubuchi et al. (2026) studied this question.
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