TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects
This study highlights four candidate non-coding variants that may contribute to IRIDA expression in monoallelic subjects, offering new insights into its genetic basis. Functional validation is required to confirm their role in disease pathogenesis, refine genotype-phenotype correlations, and improve diagnostic accuracy in monoallelic IRIDA.
Authors
- Vera Hoving (ORCID: https://orcid.org/0000-0002-5036-8554)
- D. W. Swinkels
- Albertine E. Donker (ORCID: https://orcid.org/0000-0002-9852-515X)
- S. Schols
- R. Smeets
- Bert P. W. J. van den Heuvel
Institutions
- Radboud University Nijmegen (NL)
- Radboud University Medical Center (NL)
- Sanquin (NL)
- Radboud Institute for Molecular Life Sciences (NL)
- Máxima Medisch Centrum (NL)
Publication Details
- Journal
- Genes
- Published
- 2026-01-08
- DOI
- https://doi.org/10.3390/genes17010074
- Primary Topic
- Iron Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00