Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation

被引：4
|
作者：
Tuengler, Victoria [1 ]
Doebler-Neumann, Marion [2 ]
Salandin, Michaela [3 ]
Kaufmann, Peter [4 ]
Wolf, Christine [1 ]
Lucas, Nadja [1 ]
Harmuth, Florian [5 ]
Reichbauer, Jennifer [6 ,7 ,8 ]
Kraegeloh-Mann, Ingeborg [2 ]
Schuele, Rebecca [6 ,7 ,8 ]
Lee-Kirsch, Min Ae [1 ]
机构：
[1] Tech Univ Dresden, Dept Pediat, Med Fak Carl Gustav Carus, Dresden, Germany
[2] Univ Tubingen, Dept Neuropediat, Tubingen, Germany
[3] Bolzano Reg Hosp, Paediat Dept, Child Neurol & Psychiat Unit, Bolzano, Italy
[4] Bolzano Reg Hosp, Paediat Dept, Child Haematol & Oncol Unit, Bolzano, Italy
[5] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
[6] Univ Tubingen, Ctr Neurol, Tubingen, Germany
[7] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany
[8] German Ctr Neurodegenerat Dis, Bonn, Germany
来源：
NEUROLOGY-GENETICS | 2020年 / 6卷 / 01期
基金：
欧盟地平线“2020”;
关键词：
D O I：
10.1212/NXG.0000000000000384
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
页数：3
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