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

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

Abstract 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...

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Bibliographic Details
Main Authors: Xingru Ding, Jinghan Yang, Xiao Han, Yi-Fan Shen, Kangkang Yang, Yaoyao Shangguan, Yiwei Dong, Xiaohua Ye
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Trisomy 8
Behçet’s disease
NRAS
Genetic sequencing
Chromosome abnormality
Online Access:https://doi.org/10.1186/s13023-025-03878-y
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