Exome sequencing in a large cohort of individuals with VATER/VACTERL association for identification of disease-causing variants in disease-associated genes and prioritization of candidate genes

被引：0
|
作者：
Comic, Jasmina [1 ,2 ]
Riedhammer, Korbinian M. [1 ,2 ]
Vill, Katharina [3 ,4 ]
Abazi-Emini, Nora [5 ]
Seitz, Barbara [6 ]
Braunisch, Matthias C. [1 ,2 ]
Brugger, Mela-Nie [1 ]
Tasic, Velibor [5 ]
Reutter, Heiko [7 ]
Hoefele, Julia [1 ]
机构：
[1] Tech Univ Munich, Klinikum Rechts Isar, Sch Med, Inst Human Genet, Munich, Germany
[2] Tech Univ Munich, Klinikum Rechts Isar, Sch Med, Dept Nephrol, Munich, Germany
[3] Ludwig Maximilians Univ Munchen, LMU Hosp, Dr Hauner Childrens Hosp, Dept Pediat Neurol & Dev Med, Munich, Germany
[4] LMU, Ctr Children Med Complexity, Munich, Germany
[5] Univ Childrens Hosp, Med Fac Skopje, Dept Pediat Nephrol, Skopje, North Macedonia
[6] KfH Kuratorium Dialyse & Nierentransplantat EV, KfH Board Trustees Dialysis & Kidney Transplantat, Neu Isenburg, Germany
[7] Univ Erlangen Nurnberg, Dept Neonatol & Pedi atric Intens Care, Erlangen, Germany
来源：
PEDIATRIC NEPHROLOGY | 2023年 / 38卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
P1-046
引用
收藏
页码：2287 / 2288
页数：2
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