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Article

Fabry Disease with Genetic Variants of Unknown Significance and Concomitant Immunoglobulin A Nephropathy.

Kidney & blood pressure research - 1 Jan 2024

Zhou Huan, Wang Siqing, Chen Yilin, Yang Dandan, Tang Yi, Tan Jiaxing, Qin Wei

Abstract excerpt

INTRODUCTION: The diagnosis of Fabry disease (FD) with genetic variants of unknown significance (VUSs) is relatively difficult. We explored patients with novel VUS variants and concomitant immunoglobulin A nephropathy (IgAN) to improve the understanding of VUS. METHODS: The study retrospectively investigated patients with genetically confirmed FD. Probands with VUS were selected from the database of FD patients...

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PMID: 39348817
DOI: 10.1159/000541207

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