De novo variants in PPFIA2 in individuals with neurodevelopmental disorders - evidence for the first α-liprinopathy

被引：0

作者：

Brunet, Theresa ^{[1
,2
,3
]}

Zech, Michael ^{[1
,3
,4
]}

Schatz, Ulrich ^{[1
,3
]}

Adamovicova, Miriam ^{[5
]}

Wagner, Matias ^{[1
,2
,3
,4
]}

Graf, Elisabeth ^{[1
,3
]}

Berutti, Riccardo ^{[1
,3
,4
]}

Weigand-Brunnhoelzl, Heike ^{[2
]}

Jech, Robert ^{[6
,7
]}

Meitinger, Thomas ^{[1
,3
]}

Winkelmann, Juliane ^{[1
,3
,4
,8
,9
]}

Brugger, Melanie ^{[1
,3
]}

机构：

[1] Tech Univ Munich, Inst Human Genet, Sch Med, Klinikum Rechts Isar, Munich, Germany

[2] LMU Univ Munich, Dept Pediat Neurol & Dev Med, Dr v Hauner Childrens Hosp, Munich, Germany

[3] Bavarian Genomes Network Rare Disorders, Munich, Germany

[4] Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany

[5] Thomayer Hosp, Dept Paediat Neurol, Prague, Czech Republic

[6] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

[7] Charles Univ Prague, Gen Univ Hosp Prague, Prague, Czech Republic

[8] Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany

[9] Munich Cluster Syst Neurol, Munich, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：

P09.038.B

引用

页码：467 / 467

页数：1

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