Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine - Tập 25 - Trang 100314 - 2023
Georg F. Vogel1,2, Yael Mozer-Glassberg3, Yuval E. Landau4,5, Lea D. Schlieben6,7, Holger Prokisch6,7, René G. Feichtinger8, Johannes A. Mayr8, Heiko Brennenstuhl9,10, Julian Schröter11, Agnes Pechlaner1, Fowzan S. Alkuraya12, Joshua J. Baker13, Giulia Barcia14,15, Ivo Baric16, Nancy Braverman17, Birute Burnyte18, John Christodoulou19,20, Elzbieta Ciara21, David Coman22, Anibh M. Das23
1Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria
2Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria
3Institute for Gastroenterology, Nutrition and Liver diseases, Schneider Children’s Medical Center of Israel, Petah Tiqwa, Israel
4Metabolism Service, Schneider Children’s Medical Center of Israel, Petah Tiqwa, Israel
5Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
6Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany
7Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany
8University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria
9Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
10Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
11Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
12Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
13Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL
14Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France
15Institut Imagine, INSERM UMR 1163, Paris, France
16Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia
17Division of Medical Genetics, Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
18Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
19Brain and Mitochondrial Research Group, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
20Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia
21Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
22Faculty of Medicine, Queensland Children’s Hospital, University of Queensland, Herston, Brisbane, Queensland, Australia
23Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany

Tài liệu tham khảo

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Genetics in Medicine

Tập 25

100314

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