Article
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.
The Journal of pediatrics - 1 Sept 2016
Mussa Alessandro, Molinatto Cristina, Baldassarre Giuseppina, Riberi Evelise, Russo Silvia, Larizza Lidia, Riccio Andrea, Ferrero Giovanni Battista
Abstract excerpt
OBJECTIVE: To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene (CDKN1C) mutation. STUDY DESIGN: Studies on BWS and tumor development published between 2000 and 2015...
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