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Article

Molecular Findings in Beckwith–Wiedemann Syndrome

16 Apr 2013

Abstract excerpt

Our understanding of Beckwith-Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development. Studies of the molecular changes associated with the BWS phenotype have been instrumental in...

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PMID: 23592339
DOI: 10.1002/ajmg.c.31363

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