业界动态国内医卫资讯
自身炎症性疾病诊断不足：基因组视角
Medscape News · 2026-10-30 22:24
摘要
一项基因组优先分析显示，与系统性自身炎症性疾病相关的致病性变异很少被诊断；许多携带这些变异的参与者表现出临床相关特征。Medscape Medical News
English
Autoinflammatory Diseases Underdiagnosed: A Genomic View
A genome-first analysis reveals that pathogenic variants linked to systemic autoinflammatory diseases are rarely diagnosed; many participants who carry the variants show clinically relevant features. Medscape Medical News