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

页数：3

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