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Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?

12 Aug 2016

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is the most common imprinting disorder and consequently, one of the most common cancer predisposition disorders. Over the past 20 years, our understanding of the genetics and epigenetics leading to BWS has evolved and genotype/phenotype correlations have become readily apparent. Clinical management of these patients is focused on omphaloceles, hypoglycemia, macroglossia,...

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PMID: 27518916
DOI: 10.1002/ajmg.a.37881

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