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.

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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
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article

Evaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants

Sıla Atamyıldız Uçar, Mahmut Seyfeddin Öz, Betül Sözeri, Eray Tunce
Postgraduate Medicine
Genomics and Rare Diseases
article

Evaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants

Sıla Atamyıldız Uçar, Mahmut Seyfeddin Öz, Betül Sözeri, Eray Tunce
article en

Abstract

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.

Postgraduate MedicineVol. 138(2)
University of Health Science (KH)
Good health and well-being
Openalex Percentile: Top 37%
Genomics and Rare Diseases
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