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
Database: MEDLINE Ultimate
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2023.104731