Article

Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patients

2025-05-07

Abstract excerpt

<title>Abstract</title> <p> Beckwith-Wiedemann spectrum (BWSp) is an overgrowth disorder caused by both genetic and epigenetic defects within the 11p15.5 chromosomal region. The most common cause of BWSp is DNA methylation anomalies in two imprinting control regions (ICR1, the telomeric centre that includes H19/IGF2:IG DMR and ICR2, the centromeric centre that includes KCNQ1OT1:TSS-DMR) located within the 11p15....

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Literature Corpus work: 2dc9baf2-3cca-54f1-bf77-9b17bc92c198
DOI: 10.21203/rs.3.rs-6555801/v1

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