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Peng-Fei Liu

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Open access Sep 2026

Multisystem developmental abnormalities and insulin resistance in ADTKD-HNF1B with the p.E105K variant: A clinical conundrum.

AIMS HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD-HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism un...

Yun-Ze Wang, Kang-Chun Xu, Peng-Fei Liu et al. · 0 citations

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