Severe neurodevelopmental disease caused by a homozygous TLK2 variant

被引：0
|
作者：
Topf, A. [1 ]
Oktay, Y. [2 ]
Balaraju, S. [1 ]
Yilmaz, E. [2 ]
Sonmezler, E. [2 ]
Yis, U. [3 ]
Laurie, S. [4 ]
Thompson, R. [1 ]
Roos, A. [1 ,5 ]
MacArthur, D. G. [6 ,7 ]
Yaramis, A. [8 ]
Gungor, S. [9 ]
Lochmueller, H. [4 ,10 ,11 ,12 ]
Hiz, S. [3 ]
Horvath, R. [13 ]
机构：
[1] Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle, England
[2] Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, Izmir, Turkey
[3] Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey
[4] Barcelona Inst Sci & Technol, Ctr Genom Regulat, CRG, CNAG, Barcelona, Spain
[5] Leibniz Inst Analyt Wissensch, ISAS, Dortmund, Germany
[6] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[7] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
[8] Diyarbakir Mem Hosp, Pediat Neurol Clin, Diyarbakir, Turkey
[9] Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey
[10] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
[11] Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada
[12] Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Freiburg, Germany
[13] Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England
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：
E-P08.19
引用
收藏
页码：1850 / 1851
页数：2
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