De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features

被引：0

作者：

Gordon, C. T. ^{[1
]}

Mak, C. ^{[2
]}

Doherty, D. ^{[3
]}

Lin, A. ^{[4
]}

Vegas, N. ^{[1
]}

Cho, M. ^{[5
]}

Viot, G. ^{[6
]}

Dimartino, C. ^{[1
]}

Weisfeld-Adams, J. ^{[7
]}

Lessel, D. ^{[8
]}

Joss, S. ^{[9
]}

Li, C. ^{[10
]}

Gonzaga-Jauregui, C. ^{[11
]}

Zarate, Y. ^{[12
]}

Horn, D. ^{[13
]}

Troyer, C. ^{[14
]}

Kant, S. ^{[15
]}

Leung, G. ^{[2
]}

Barone, A. ^{[16
]}

Yang, S. ^{[5
]}

Bend, E. ^{[17
]}

Roadhouse, C. ^{[10
]}

Zahir, F. ^{[18
]}

Stolerman, E. ^{[17
]}

Bienvenu, T. ^{[19
]}

Orenstein, N. ^{[20
]}

Dobyns, W. ^{[3
]}

Shieh, J. ^{[21
]}

Waggoner, D. ^{[22
]}

Gripp, K. ^{[23
]}

Parker, M. ^{[24
]}

Stoler, J. ^{[25
]}

Lyonnet, S. ^{[1
]}

Cormier-Daire, V. ^{[1
]}

Viskochil, D. ^{[26
]}

Hoffman, T. ^{[27
]}

Amiel, J. ^{[1
]}

Chung, B. ^{[2
]}

机构：

[1] INSERM, U1163, Inst Imagine, Paris, France

[2] Univ Hong Kong, Hong Kong, Peoples R China

[3] Univ Washington, Seattle, WA 98195 USA

[4] MassGen Hosp Children, Boston, MA USA

[5] GeneDx, Gaithersburg, MD USA

[6] Hop Cochin, Paris, France

[7] Univ Colorado, Aurora, CO USA

[8] Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany

[9] West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland

[10] McMaster Univ, Med Ctr, Hamilton, ON, Canada

[11] Regeneron Genet Ctr, Tarrytown, NY USA

[12] Univ Arkansas Med Sci, Little Rock, AR 72205 USA

[13] Inst Med Genet & Humangenet, Berlin, Germany

[14] Univ Virginia, Charlottesville, VA USA

[15] Leiden Univ, Med Ctr, Leiden, Netherlands

[16] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[17] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[18] Univ British Columbia, Vancouver, BC, Canada

[19] Inst Cochin, Paris, France

[20] Tel Aviv Univ, Tel Aviv, Israel

[21] Univ Calif San Francisco, San Francisco, CA 94143 USA

[22] Univ Chicago, Chicago, IL 60637 USA

[23] AI duPont Hosp Children Nemours, Wilmington, DE USA

[24] Sheffield Childrens Hosp, Sheffield, S Yorkshire, England

[25] Boston Childrens Hosp, Boston, MA USA

[26] Univ Utah, Salt Lake City, UT USA

[27] Southern Calif Kaiser Permanente Med Grp, Anaheim, CA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27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：

C05.5

引用

页码：1093 / 1094

页数：2

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