Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
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| Title: | Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics. |
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| Authors: | Wedge E; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark., Rasmussen AØ; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Borgwardt L; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Cowland JB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Grønbæk K; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Issa II; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark., Friis LS; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hvidbjerg MS; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Jelsig AM; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 959-965. Date of Electronic Publication: 2025 Dec 02. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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