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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

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作者单位: Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. [1] CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada. [2] Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences (GIN), Grenoble, France. [3] Department of Genetic Medicine, Belfast City Hospital, Belfast, Northern Ireland, UK. [4] Department of Dermatology, Copenhagen University Hospital Bispebjerg, Copenhagen, NV, Denmark. [5] Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. [6] Department of Neurology, Interdisciplinary Excellence Center, Faculty of Medicine, Albert Szent-Györgyi Clinical Center, University of Szeged, Szeged, Hungary. [7] Department of Pediatric Neurology, Clínica Las Condes, Santiago, Chile. [8] The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. [9] Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. [10] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. [11] Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK. [12] Department of Medical Genetics, Poznañ University of Medical Sciences, Poznañ, Poland. [13] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. [14] Genetic Health Service New Zealand-Northern Hub, Auckland, New Zealand. [15] Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada. [16] Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK. [17] Chalfont Centre for Epilepsy, Bucks, UK. [18] Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, Netherlands. [19] Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. p.campeau@umontreal.ca. [20]
DOI 10.1038/s41436-020-00969-y
PMID 32934366
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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