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. 2026 Feb 6;13:1741795. doi: 10.3389/fmed.2026.1741795

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Copyright © 2026 Zhao, Yu and Huang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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A two-panel image shows (A) a pedigree chart with three generations. The filled square at the bottom middle indicates an affected male. (B) DNA sequencing chromatograms for three family members, labeled II 1, II 2, and III1. Variants c.5850_5851insTTCAT and c.8710G>A are highlighted in red boxes in the chromatograms. — Family pedigree and sequencing results of the patient with polycystic kidney disease. (A) Pedigree of the proband’s family, the arrow shows the proband. (B) Sequencing results of compound heterozygous variant sites in the PKHD1 gene.