第一单位：
Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
作者：
Ghada M H,Abdel-Salam [1]
;
Susanne,Hellmuth [2]
;
Elise,Gradhand [3]
;
Stephan,Käseberg [4]
;
Jennifer,Winter [4]
;
Ann-Sophie,Pabst [4]
;
Maha M,Eid [5]
;
Holger,Thiele [6]
;
Peter,Nürnberg [6]
;
Birgit S,Budde [7]
;
Mohammad Reza,Toliat [8]
;
Ines B,Brecht [6]
;
Christopher,Schroeder [6]
;
Axel,Gschwind [9]
;
Stephan,Ossowski [10]
;
Friederike,Häuser [10]
;
Heidi,Rossmann [10]
;
Mohamed S,Abdel-Hamid [11]
;
Ibrahim,Hegazy [11]
;
Ahmed G,Mohamed [12]
;
Dominik T,Schneider [1]
;
Aida,Bertoli-Avella [13]
;
Peter,Bauer [14]
;
Jillian N,Pearring [15]
;
Rolph,Pfundt [15]
;
Alexander,Hoischen [16]
;
Christian,Gilissen [17]
;
Dennis,Strand [18]
;
Ulrich,Zechner [18]
;
Soha A,Tashkandi [19]
;
Eissa A,Faqeih [18]
;
Olaf,Stemmann [20]
;
Susanne,Strand [4]
;
Hanno J,Bolz [21]
作者单位：
Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[1]
Chair of Genetics, University of Bayreuth, Bayreuth, Germany.
[2]
Senckenberg Institute of Pathology, University Hospital Frankfurt, Frankfurt, Germany.
[3]
Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
[4]
Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[5]
Cologne Center for Genomics and.
[6]
Center for Molecular Medicine Cologne, University Hospital of Cologne, University of Cologne, Cologne, Germany.
[7]
Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
[8]
Paediatric Haematology/Oncology, Department of Paediatrics, University Hospital Tübingen, Tübingen, Germany.
[9]
Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.
[10]
Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
[11]
Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[12]
Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
[13]
Clinic of Pediatrics, University Witten/Herdecke, Dortmund, Germany.
[14]
CENTOGENE GmbH, Rostock, Germany.
[15]
Department of Ophthalmology and Visual Sciences and.
[16]
Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.
[17]
Department of Human Genetics and Radboud Institute for Molecular Life Sciences and.
[18]
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
[19]
Department of Internal Medicine I, University Medical Center Mainz, Mainz, Germany.
[20]
Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.
[21]
Cytogenetics Laboratory, Pathology and Clinical Laboratory Medicine Administration (PCLMA), King Fahad Medical City, Second Central Healthcare Cluster (C2), Riyadh, Saudi Arabia.
[22]
Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
[23]
Institute of Human Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.
[24]
DOI
10.1172/jci.insight.170079
PMID
37796616
发布时间
2023-12-16
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