换一批
换一批ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
作者：
Lucia,Laugwitz [1]
;
Fubo,Cheng [2]
;
Stephan C,Collins [1]
;
Alexander,Hustinx [3]
;
Nicolas,Navarro [4]
;
Simon,Welsch [5]
;
Helen,Cox [6]
;
Tzung-Chien,Hsieh [7]
;
Aswinkumar,Vijayananth [8]
;
Rebecca,Buchert [4]
;
Benjamin,Bender [4]
;
Stephanie,Efthymiou [1]
;
David,Murphy [9]
;
Faisal,Zafar [10]
;
Nuzhat,Rana [11]
;
Ute,Grasshoff [12]
;
Ruth J,Falb [12]
;
Mona,Grimmel [1]
;
Annette,Seibt [13]
;
Wenxu,Zheng [1]
;
Hamid,Ghaedi [1]
;
Marie,Thirion [7]
;
Sébastien,Couette [1]
;
Reza,Azizimalamiri [14]
;
Saeid,Sadeghian [3]
;
Hamid,Galehdari [5]
;
Mina,Zamani [6]
;
Jawaher,Zeighami [15]
;
Alireza,Sedaghat [15]
;
Samira Molaei,Ramshe [16]
;
Ali,Zare [16]
;
Behnam,Alipoor [17]
;
Dirk,Klee [17]
;
Marc,Sturm [17]
;
Stephan,Ossowski [18]
;
Henry,Houlden [14]
;
Olaf,Riess [14]
;
Dagmar,Wieczorek [19]
;
Ryan,Gavin [20]
;
Reza,Maroofian [1]
;
Peter,Krawitz [21]
;
Binnaz,Yalcin [1]
;
Felix,Distelmaier [22]
;
Tobias B,Haack [10]
作者单位：
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.
[1]
Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany.
[2]
Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France.
[3]
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany.
[4]
Biogeosciences, UMR 6282 CNRS, EPHE, Université de Bourgogne, Dijon 2100, France.
[5]
EPHE, PSL University, Paris 75014, France.
[6]
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany.
[7]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK.
[8]
Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of Tübingen, Tübingen 72076, Germany.
[9]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
[10]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
[11]
Pediatric Neurology, Children's Hospital, Multan 60000, Pakistan.
[12]
Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany.
[13]
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.
[14]
Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.
[15]
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
[16]
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran.
[17]
Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.
[18]
Department of Laboratory Sciences, Faculty of Paramedicine, Yasuj University of Medical Sciences, Yasuj 7591741417, Iran.
[19]
Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, Düsseldorf 40225, Germany.
[20]
Genomics England, Queen Mary University of London, London EC1M 6BQ, UK.
[21]
NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen 72076, Germany.
[22]
Medical Faculty and University Hospital Düsseldorf, Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Düsseldorf 40225, Germany.
[23]
West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.
[24]
主题词
青少年(Adolescent);动物(Animals);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);婴儿(Infant);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);转录因子(Transcription Factors)
DOI
10.1093/brain/awae058
PMID
38386308
发布时间
2024-07-13
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Brain
Brain
2471-2482页
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