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Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

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Title: Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Authors: Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Departments of Pathology, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: marco.leung@nationwidechildrens.org., Woodhull W; Division of Pediatric Neurology, Renown Children's Hospital, Reno, NV, USA; University of Nevada, Reno School of Medicine, Reno, NV, USA., Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK., Schord S; Division of Hospital Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Mato RP; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK., Rodriguez DP; Department of Radiology, Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA., Ream M; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Pediatric Neurology, Nationwide Children's Hospital, Columbus, OH, USA., Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France., Mori M; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: mari.mori@nationwidechildrens.org.
Source: European journal of medical genetics [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104731. Date of Electronic Publication: 2023 Feb 11.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
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  Data: Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Leung+ML%22">Leung ML</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Departments of Pathology, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: marco.leung@nationwidechildrens.org.<br /><searchLink fieldCode="AU" term="%22Woodhull+W%22">Woodhull W</searchLink>; Division of Pediatric Neurology, Renown Children's Hospital, Reno, NV, USA; University of Nevada, Reno School of Medicine, Reno, NV, USA.<br /><searchLink fieldCode="AU" term="%22Uggenti+C%22">Uggenti C</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Schord+S%22">Schord S</searchLink>; Division of Hospital Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Mato+RP%22">Mato RP</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Rodriguez+DP%22">Rodriguez DP</searchLink>; Department of Radiology, Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA.<br /><searchLink fieldCode="AU" term="%22Ream+M%22">Ream M</searchLink>; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Pediatric Neurology, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Crow+YJ%22">Crow YJ</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mori+M%22">Mori M</searchLink>; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: mari.mori@nationwidechildrens.org.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104731. <i>Date of Electronic Publication: </i>2023 Feb 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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              Text: 2023 Apr
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