Author

Xiaohong Wang

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Case report Sep 2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Yijuan Huang, Yuanqiu Chen, Shao-Bin Lin et al. · Zhonghua yi xue yi chuan xue... · 0 citations

Open access Jul 2026

Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3

Background Multiple mitochondrial dysfunction syndrome type 3 (MMDS3; OMIM #615330) is a rare autosomal recessive disorder caused by mutations in IBA57. Its complex clinical presentation and molecular pathogenesis remain incompletely understood. Methods The study included comprehensive clinical evaluation, IBA57 geneti...

Yijuan Huang, C. Gou, Yuanqiu Chen et al. · Frontiers in Genetics · 0 citations