Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

被引：0

作者：

Uguen, Kevin

Krysiak, Kilannin ^{[3
]}

Bellanger, Severine Audebert

Quemener, Sylvia

Benech, Caroline

Viora-Dupont, Eleonore ^{[4
]}

Mau-Them, Frederic Tran ^{[5
,6
]}

Rondeau, Sophie ^{[7
]}

Elsharkawi, Ibrahim ^{[8
]}

Granadillo De Luque, Jorge Luis ^{[8
]}

Neidich, Julie ^{[3
]}

Soares, Celia Azevedo ^{[9
,10
]}

Tkachenko, Natalia ^{[9
]}

Shivarajan, M. Amudhavalli ^{[11
]}

Engleman, Kendra ^{[11
]}

Boland, Anne ^{[12
]}

Deleuze, Jean-Francois ^{[12
]}

Bezieau, Stephane ^{[13
]}

Odent, Sylvie ^{[14
]}

Toutain, Annick ^{[15
]}

Bonneau, Dominique ^{[16
]}

Gilbert-Dussardier, Brigitte ^{[17
]}

Faivre, Laurence ^{[4
,6
]}

Rio, Marlene ^{[7
]}

Le Marechal, Cedric ^{[1
,2
]}

Ferec, Claude ^{[1
]}

Repnikova, Elena ^{[18
]}

Cao, Yang ^{[3
]}

机构：

[1] Univ Brest, INSERM, EFS, UMR 1078, Brest, France

[2] CHU Brest, Serv Genet Med & Biol Reproduct, Brest, France

[3] Washington Univ, Dept Pathol & Immunol, Sch Med, Washington, DC USA

[4] CHU Dijon, Ctr Reference Anomalies Dev & Syndromes, FHU TRANSLAD, Hop Enfants, Dijon, France

[5] CHU Dijon Bourgogne, Pole Biol, Unite Fonct Innovat Diagnost Genom 6254, Dijon, France

[6] Univ Bourgogne, UMR1231 GAD, FHU TRANSLAD, Dijon, France

[7] Hop Necker Enfants Malad, Federat Genet Med, AP HP, Paris, France

[8] Washington Univ, Dept Pediat, Sch Med, St Louis, MO USA

[9] Ctr Hosp Univ Porto, Ctr Genet Med Jacinto Magalhaes, Serv Genet Med, Porto, Portugal

[10] Univ Porto, Unit Multi Disciplinary Res Biomed, Inst Ciencias Biomed Abel Salazar, Porto, Portugal

[11] Childrens Mercy Hosp, Dept Clin Genet, Kansas City, KS USA

[12] Univ Paris Saclay, Ctr Natl Rech Genom Humaine, CEA, Evry, France

[13] Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France

[14] Ctr Hosp Univ Rennes, Ctr Reference Deficiences Intellectuelles Causes, Ctr Reference Anomalies Dev,Serv Genet Clin, Ctr Labellise Ies Anomalies Dev CLAD Ouest, Rennes, France

[15] Ctr Hosp Univ Tours, Serv Genet, Tours, France

[16] Ctr Hosp Univ Angers, Dept Biochim & Genet, Angers, France

[17] Ctr Hosp Univ Poitiers, Serv Genet, Poitiers, France

[18] Univ Missouri, Childrens Mercy Hosp, Dept Pathol, Med Sch, Kansas City, KS USA

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：

EP09.057

引用

页码：186 / 186

页数：1

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