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Jiang-Qin Song

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Case report Open access Sep 2026

Case Report: Hereditary transthyretin amyloidosis in a Chinese family with the transthyretin variant p.Y89H

Background Hereditary transthyretin amyloidosis (hATTR) is a rare, life-threatening multisystem disorder caused by pathogenic variants in the transthyretin (TTR) gene. Its clinical manifestations are highly heterogeneous, frequently resulting in diagnostic delay or misdiagnosis.hATTR caused by the TTR p.Y89H variant is...

Feng-Zhu Zhao, Yi-Jing Xiao, Ying-Jia Li et al. · 0 citations

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