作者：
Magdalena,Danyel [1]
;
Zhuo,Cheng [2]
;
Christine,Jung [1]
;
Felix,Boschann [3]
;
Jean Tori,Pantel [1]
;
Nurulhuda,Hajjir [1]
;
Ricarda,Flöttmann [4]
;
Solveig,Schulz [1]
;
Ilja,Demuth [5]
;
Eamonn,Sheridan [1]
;
Stefan,Mundlos [6]
;
Denise,Horn [7]
;
Martin A,Mensah [8]
作者单位：
Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
[1]
Berlin Center for Rare Diseases, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
[2]
SYNLAB Praxis für Humangenetik Karlsruhe, Karlsruhe, Germany.
[3]
Institute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
[4]
Klinik für Pädiatrie m. S. Gastroenterologie, Nephrologie und Stoffwechselmedizin, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
[5]
Center of Human Genetics, Jena University Hospital, Jena, Germany.
[6]
Lipid Clinic at the Interdisciplinary Metabolism Center, Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
[7]
Berlin-Brandenburg Center for Regenerative Medicine (BCRT), Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
[8]
Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, UK.
[9]
School of Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK.
[10]
Max Planck Institute for Molecular Genetics, D 14195, Berlin, Germany.
[11]
Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany. martin-atta.mensah@charite.de.
[12]
Berlin Institute of Health (BIH), Anna-Louisa-Karsch-Str. 2, 10178, Berlin, Germany. martin-atta.mensah@charite.de.
[13]
DOI
10.1038/s41431-019-0469-3
PMID
31320746
发布时间
2021-01-10
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