Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance

被引：0
|
作者：
Thompson, Laura [1 ]
Thoreson, Emily [1 ]
Groepper, Daniel [2 ]
Train, Laura [1 ]
Meyer, Melanie [1 ]
Glessner, Heather [3 ]
Fleischer, Julie [2 ]
Hasadsri, Linda [1 ]
Baudhuin, Linnea [1 ]
机构：
[1] Mayo Clin, Div Lab Genet & Genom, Dept Lab Med & Pathol, Rochester, MN USA
[2] Southern Illinois Univ, Dept Pediat, Sch Med, Springfield, IL USA
[3] Everly Hlth, Genet Serv, Austin, TX USA
来源：
GENETICS IN MEDICINE | 2022年 / 24卷 / 03期
关键词：
D O I：
10.1016/j.gim.2022.01.442
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
eP407
引用
收藏
页码：S256 / S256
页数：1
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