Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism

被引：0

作者：

Harms, F. L. ^{[1
]}

Girisha, K. M. ^{[2
]}

Hardigan, A. A. ^{[3
,4
]}

Kortuem, F. ^{[1
]}

Shukla, A. ^{[2
]}

Alawi, M. ^{[5
,6
,7
]}

Dalal, A. ^{[8
]}

Brady, L. ^{[9
]}

Tarnopolsky, M. ^{[9
]}

Bird, L. M. ^{[10
,11
]}

Ceulemans, S. ^{[11
]}

Bebin, M. ^{[12
]}

Bowling, K. M. ^{[3
]}

Hiatt, S. M. ^{[3
]}

Lose, E. J. ^{[4
]}

Primiano, M. ^{[13
]}

Chung, W. K. ^{[13
]}

Juusola, J. ^{[14
]}

Akdemir, Z. C. ^{[15
]}

Bainbridge, M. ^{[16
]}

Charng, W. ^{[15
]}

Drummond-Borg, M. ^{[17
]}

Eldomery, M. K. ^{[15
]}

El-Hattab, A. W. ^{[18
]}

Saleh, M. A. M. ^{[19
]}

Bezieau, S. ^{[20
]}

Cogne, B. ^{[20
]}

Isidor, B. ^{[20
,21
]}

Kury, S. ^{[20
]}

Lupski, J. R. ^{[15
]}

Myers, R. M. ^{[3
]}

Cooper, G. M. ^{[3
]}

Kutsche, K. ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[2] Manipal Univ, Dept Med Genet, Kasturba Med Coll, Manipal, Karnataka, India

[3] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[4] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[5] Univ Med Ctr Hamburg Eppendorf, Bioinformat Serv Facil, Hamburg, Germany

[6] Univ Hamburg, Ctr Bioinformat, Hamburg, Germany

[7] Leibniz Inst Expt Virol, Virus Genom, Heinrich Pette Inst, Hamburg, Germany

[8] Ctr DNA Fingerprinting & Diagnost, Diagnost Div, Hyderabad, Telangana, India

[9] McMaster Univ, Dept Pediat, Med Ctr, Hamilton, ON, Canada

[10] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[11] Rady Childrens Hosp San Diego, Div Genet Dysmorphol, San Diego, CA USA

[12] Univ Alabama Birmingham, Dept Neurol, UAB Stn, Birmingham, AL 35294 USA

[13] Columbia Univ, Dept Pediat & Med, New York, NY USA

[14] GeneDx, Gaithersburg, MD USA

[15] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[16] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[17] Cook Childrens Genet Clin, Ft Worth, TX USA

[18] Tawam Hosp, Dept Pediat, Div Clin Genet & Metab Disorders, Al Ain, U Arab Emirates

[19] King Fahad Med City, Childrens Hosp, Sect Med Genet, Riyadh, Saudi Arabia

[20] CHU Nantes, Serv Genet Med, Nantes, France

[21] INSERM, UMR S 957, Nantes, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26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：

C16.2

引用

页码：84 / 84

页数：1

共 34 条

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[30] Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
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