Paternal Duplication of the 11p15 Centromeric Imprinting Control Region Is Associated with Increased Expression of CDKN1C in a Child with Russell-Silver Syndrome

被引:4
|
作者
Xue, Yuan [1 ,2 ]
Shankar, Suma [2 ]
Cornell, Kristen [2 ]
Dai, Zunyan [1 ,2 ]
Wang, Chuan-En [2 ]
Rudd, M. Katherine [1 ,2 ]
Coffee, Bradford [1 ,2 ]
机构
[1] Emory Univ, Emory Genet Lab, Atlanta, GA 30322 USA
[2] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
关键词
BECKWITH-WIEDEMANN SYNDROME; COPY NUMBER VARIATIONS; PCNA-BINDING DOMAIN; CHROMOSOME; 11P15; INSIGHTS;
D O I
10.1002/ajmg.a.37371
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:3229 / 3233
页数:5
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