Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with...

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Veröffentlicht in:Clinical epigenetics 2013-12, Vol.5 (1), p.23-23, Article 23
Hauptverfasser: Tee, Louise, Lim, Derek Hk, Dias, Renuka P, Baudement, Marie-Odile, Slater, Amy A, Kirby, Gail, Hancocks, Tom, Stewart, Helen, Hardy, Carol, Macdonald, Fiona, Maher, Eamonn R
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