Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigenetic alterations and potential epigenotype-phenotype correlations in Korean children with BWS.

中文翻译：

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解读贝克威斯-维德曼综合征韩国队列的表观遗传背景。

Beckwith-Wiedemann 综合征 (BWS) 是一种先天性过度生长障碍，由 11p15.5 区域的两个印记中心 (IC) 的遗传或表观遗传改变引起。分子缺陷的描述对于预后和预测家族性复发很重要。我们评估了患有 BWS 的韩国儿童的表观遗传改变和潜在的表观基因型-表型相关性。