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Article

Prevalence of beckwith–wiedemann syndrome in North West of Italy

5 Aug 2013

Abstract excerpt

Although Beckwith-Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates of its occurrence show wide variability. The aim of this study is to assess its prevalence in Piedmont Region (Italy). We included in the study all patients diagnosed with BWS born in Piedmont from 1997 to 2009 through a search in the Italian Registry for...

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PMID: 23918458
DOI: 10.1002/ajmg.a.36080

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