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.
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
Description
ISSN:1552-4833
DOI:10.1002/ajmga.70015