Article
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Human reproduction (Oxford, England) - 1 Mar 2009
Lim Derek, Bowdin Sarah C, Tee Louise, Kirby Gail A, Blair Edward, Fryer Alan, Lam Wayne, Oley Christine, Cole Trevor, Brueton Louise A, Reik Wolf, Macdonald Fiona, Maher Eamonn R
Abstract excerpt
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5. Most BWS cases are sporadic and result from imprinting errors (epimutations) involving either of the two 11p15.5 imprinting control regions (IC1 and IC2). Previously, we and other reported an association between sporadic BWS and assisted reproductive...
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