Establishing the neurodevelopmental phenotype and genotype-phenotype correlations in individuals with a TRIP12 mutation

被引：0

作者：

Aerden, Mio ^{[1
]}

Denomme-Pichon, Anne-Sophie ^{[2
]}

Koene, Saskia ^{[3
]}

Piton, Amelie ^{[4
]}

Legius, Eric ^{[1
]}

Theunis, Miel ^{[1
]}

Hsieh, Tzung-Chien ^{[5
]}

Krawitz, Peter ^{[5
]}

Misra-Isrie, Mala ^{[6
]}

Whalen, Sandra ^{[7
]}

Wieczorek, Dagmar ^{[8
]}

Herget, Theresia ^{[9
]}

Debray, Guillaume ^{[10
]}

Bramswig, Nuria ^{[11
]}

Gonzalez, Vanesa Lopez ^{[12
]}

Jouret, Guillaume ^{[13
]}

Castillo, Berta Almoguera ^{[14
]}

Gonzalez, Maria Isis Atallah ^{[15
]}

Kibaek, Maria ^{[16
]}

Bruno, Lucia ^{[17
]}

Ounap, Katrin ^{[18
]}

Santos-Simarro, Fernando ^{[19
]}

Van Esch, Hilde ^{[1
]}

机构：

[1] Katholieke Univ Leuven, Univ Hosp Leuven, Leuven, Belgium

[2] Univ Bourgogne, INSERM, Equipe GAD, UMR1231, Dijon, France

[3] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands

[4] Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France

[5] Univ Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany

[6] Univ Amsterdam, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

[7] Hop Armand Trousseau, APHP, Ctr Reference Anomalies Dev & Syndromes, UF Genet Clin, Paris, France

[8] Heinrich Heine Univ, Inst Humangenet, Dusseldorf, Germany

[9] Univ Klinikum Hamburg Eppendorf, Inst Humangenet, Hamburg, Germany

[10] Ctr Hosp Univ Liege, Ctr Human Genet, Liege, Belgium

[11] Univ Duisburg Essen, Inst Humangenet, Essen, Germany

[12] Hosp Clin Univ Virgen Arrixaca, Secc Genet Med, Serv Pediat, Murcia, Spain

[13] Natl Ctr Genet, Lab Natl Sante, Luxembourg, Luxembourg

[14] Fdn Jimenez Diaz Hosp, Dept Genet & Genom, Madrid, Spain

[15] Lausanne Univ Hosp, Div Med Genet, Lausanne, Switzerland

[16] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

[17] Univ Siena, Med Genet Unit, Siena, Italy

[18] Tartu Univ Hosp, Dept Clin Genet, Tartu, Estonia

[19] Hosp Univ La Paz, Inst Genet Med Mol, Madrid, Spain

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：

P09.007.C

引用

页码：446 / 446

页数：1

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