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Clinical features and novel pathogenic variants of patients with Behçet’s disease like trisomy 8

4 Jul 2025

Abstract excerpt

PURPOSE: Chromosomal abnormalities, such as Trisomy 8 (T8), and genetic mutations may contribute to the unique clinical phenotype of Behçet's Disease (BD). This study aims to characterize the clinical and genetic features of patients presenting with BD-like symptoms associated with T8 (T8-BD). METHODS: We analyzed a cohort of 8 patients with T8-BD and associated genetic variants, including 1 newly identified case...

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PMID: 40616106
DOI: 10.1186/s13023-025-03878-y

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