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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

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第一作者: Sara,Cuvertino
第一单位: Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.;Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
作者单位: Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.;Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK. [1] Leeds Institute of Medical Research, Faculty of Medicine and Health, The University of Leeds, Leeds, UK.;Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals Trust, Leeds, UK. [2] Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK. [3] Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK. [4] Centre of Genetics & Genomics Versus Arthritis, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, UK. [5] Department of Paediatrics, College of Medicine & Health Sciences, United Arab University, Al-Ain, UAE. [6] Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.;North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK. [7] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.;Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile. [8] Department of Clinical Genetics, Guy's & St Thomas NHS Foundation Trust, London, UK. [9] Department of Paediatrics, Tawam Hospital, Al-Ain, UAE. [10] Temple street Children's University Hospital, Dublin, Ireland. [11] Wellcome Trust Sanger Institute, Cambridge, UK. [12] Medical Genetics Unit, St. Orsola-Malpighi, University of Bologna, Bologna, Italy. [13] Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.;Department of Medical & Molecular Genetics, King's College London, London, UK. [14] Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. [15] Department of Medical & Molecular Genetics, King's College London, London, UK. [16] Queen Mary University of London, London, UK. [17] Clinical Psychology Department, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, UK. [18] Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. [19] Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.;Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. [20] Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK. [21] Leeds Institute of Medical Research, Faculty of Medicine and Health, The University of Leeds, Leeds, UK. [22] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK. Siddharth.Banka@manchester.ac.uk.;Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, UK. Siddharth.Banka@manchester.ac.uk. [23]
DOI 10.1038/s41436-020-0784-7
PMID 32203228
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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