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. 2026 Jul 13;13:1817500. doi: 10.3389/fmed.2026.1817500

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Copyright © 2026 Jin, Li, Liu, Jiang, Zhuang, Shen and Chen.

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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Pedigree diagram depicting two generations, showing inheritance of SEC23B and UGT1A1 mutations. Colored segments indicate clinical features: blue for jaundice, red for chronic anemia. Both children exhibit jaundice and chronic anemia as indicated by partially colored shapes. — Genetic findings and family segregation analysis. Pedigree analysis showing compound heterozygous SEC23B variants in the proband, with segregation of variants within the family. Coexisting UGT1A1 variants are also indicated.