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The document critiques the existence of Yao syndrome, an autoinflammatory condition associated with NOD2 variants, citing insufficient evidence to support its classification as a distinct clinical entity. Despite numerous publications, the commonality of the implicated variants suggests they do not exhibit Mendelian inheritance patterns, and large-scale studies necessary to confirm any association have not been conducted. The authors conclude that Yao syndrome should not be used in clinical practice or lite

Author

ana hf

Language

EN