Case Series: Clinical Significance of Heterozygous Pathogenic <scp> <i>RTEL1</i> </scp> Variants Identified via Routine Clinical Genetic Diagnostics
Year: 2025
Type: article
Language: en
Topic: Telomeres, Telomerase, and Senescence
Authors and affiliations:
raw_author_name: Eileen Wedge
raw_affiliation_strings: Biotech Research and Innovation Center (BRIC) University of Copenhagen  Copenhagen Denmark
Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark
Department of Hematology Copenhagen University Hospital  Copenhagen Denmark
Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark
Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark
raw_author_name: Andreas Ørslev Rasmussen
raw_affiliation_strings: Department of Genomic Medicine Copenhagen University Hospital  Copenhagen Denmark
Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark
raw_author_name: Line Borgwardt
raw_affiliation_strings: Department of Genomic Medicine Copenhagen University Hospital  Copenhagen Denmark
Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark
raw_author_name: Jack Bernard Cowland
raw_affiliation_strings: Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark
raw_author_name: Kirsten Grønbæk
raw_affiliation_strings: 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
Department of Hematology Copenhagen University Hospital  Copenhagen Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark
raw_author_name: Issa Ismail Issa
raw_affiliation_strings: Biotech Research and Innovation Center (BRIC) University of Copenhagen  Copenhagen Denmark
Department of Hematology Copenhagen University Hospital  Copenhagen Denmark
Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark
Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark
raw_author_name: Lone Smidstrup Friis
raw_affiliation_strings: Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark
Department of Hematology Copenhagen University Hospital  Copenhagen Denmark
Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
raw_author_name: Mette Klarskov Andersen
raw_affiliation_strings: Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark
raw_author_name: Marie Skov Hvidbjerg
raw_affiliation_strings: Department of Clinical Genetics Aalborg University Hospital  Aalborg Denmark
Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark
raw_author_name: Anne Marie Jelsig
raw_affiliation_strings: Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark