Evaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants
This study shows that while main clinical features are largely concordant among siblings with identical genotypes, notable differences in disease severity scores and arthritis prevalence exist. These differences are likely attributable to diagnostic delays and age-related disease evolution rather than intrinsic phenotypic divergence.
Authors
- Sıla Atamyıldız Uçar (ORCID: https://orcid.org/0000-0002-4283-0921)
- Mahmut Seyfeddin Öz
- Betül Sözeri
- Eray Tunce
Institutions
- University of Health Science (KH)
Publication Details
- Journal
- Postgraduate Medicine
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1080/00325481.2026.2638010
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00