Molecular genetics of Wiedemann-Beckwith syndrome

被引：1
|
作者：
Li, M
Squire, JA
Weksberg, R
机构：
[1] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Dept Pediat, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Princess Margaret Hosp, Ontario Canc Inst, Toronto, ON M4X 1K9, Canada
[4] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 79卷 / 04期
关键词：
Wiedemann-Beckwith syndrome; overgrowth syndromes; IGF2; p57(KIP2); genomic imprinting;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. RES is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic cause of WBS will provide important insights into the molecular and epigenetic changes associated with loss of normal growth control and cancer in this syndrome. Currently available protocols for diagnostic testing, patient monitoring and genetic counselling will. evolve as our understanding of the molecular basis of WBS progresses. (C) 1998 Wiley-Liss, Inc.
引用
收藏
页码：253 / 259
页数：7
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