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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

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第一作者: Andrew,Fleming
第一单位: Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.
作者单位: Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK. [1] Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.;Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, WA, 98105, USA. [2] Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.;National Heart and Lung Institute, Imperial College London, London, SW3 6LY, UK. [3] Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK. [4] Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.;Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. [5] Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.;MRC Prion Unit at UCL, Institute of Prion Diseases, UCL, London, W1W 7FF, UK. [6] Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK.;Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, SO16 6YD, UK. [7] Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.;MRC Centre of Global Infectious Disease Analysis, Department of Infectious Disease Epidemiology, School of Public Health, Imperial College London, London, W2 1PG, UK. [8] Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.;Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, DD1 9SY, UK. [9] Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.;Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, WA, 98105, USA.;Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA. [10] Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK. d.morris-rosendahl@rbht.nhs.uk.;National Heart and Lung Institute, Imperial College London, London, SW3 6LY, UK. d.morris-rosendahl@rbht.nhs.uk. [11]
DOI 10.1038/s41431-024-01599-7
PMID 38605126
发布时间 2024-09-19
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European journal of human genetics : EJHG

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