Beckwith-Wiedemann syndrome

被引：403
作者：
Weksberg, Rosanna [1 ,2 ,3 ,4 ]
Shuman, Cheryl [1 ,2 ,3 ]
Beckwith, J. Bruce [5 ]
机构：
[1] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Dept Genet & Genome Biol, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
[4] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A1, Canada
[5] Loma Linda Univ, Dept Pathol & Human Anat, Loma Linda, CA 92350 USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2010年 / 18卷 / 01期
关键词：
Beckwith-Wiedeman syndrome; genomic imprinting; epigenetics; chromosome; 11; tumor predisposition; TUMOR RISK; CHROMOSOME; 11P15; WILMS-TUMOR; IMPRINTING CENTER; MUTATIONS; H19; HYPOMETHYLATION; ABNORMALITIES; METHYLATION; LIT1;
D O I：
10.1038/ejhg.2009.106
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction.
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收藏
页码：8 / 14
页数：7
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