De novo variants in the PABP-domain of PABPC1 lead to developmental delay

被引：0
|
作者：
Wegler, Meret [1 ]
Jia, Xiangbin [2 ,3 ]
Alders, Marielle [4 ]
Bouman, Arjan [4 ]
Chen, Jia [2 ,3 ]
Duan, Xinyu [5 ]
Lauzon, Julie [6 ]
Mathijssen, Inge B. [4 ]
Sticht, Heinrich [7 ]
Syrbe, Steffen [8 ]
Tan, Senwei [2 ,3 ]
Guo, Hui [2 ,3 ]
Abou Jamra, Rami [1 ]
机构：
[1] Univ Leipzig, Inst Human Genet, Fac Med, Leipzig, Germany
[2] Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Peoples R China
[3] Hunan Key Lab Med Genet, Changsha, Peoples R China
[4] Univ Amsterdam, Dept Human Genet, Amsterdam UMC, Amsterdam, Netherlands
[5] Army Med Univ, Daping Hosp, Dept Pediat, Chongqing, Peoples R China
[6] Univ Calgary, Cummings Sch Med, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB, Canada
[7] Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany
[8] Univ Hosp, Div Pediat Epileptol, Ctr Pediat & Adolescent Med, Heidelberg, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
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：
C28.3
引用
收藏
页码：76 / 76
页数：1
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