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Article

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

4 Jun 2014

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with molecular studies commonly performed to confirm diagnosis. In particular, methylation status analysis at two...

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PMID: 24982696
DOI: 10.1186/1868-7083-6-11

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