Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients
Mario Cazalla, Alejandro Parra, Carlos Rodríguez‐Antolín, Cristina Silván et autres
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 …
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