Recent Publications

This study demonstrated that variants in the SOX9 transactivation middle domain can reduce SOX9 stability and functional dosage, leading to mild axial skeletal dysplasia and scoliosis. The findings broaden the…

This study linked PTBP1-associated abnormalities in nucleocytoplasmic distribution to neurodevelopmental disorders accompanied by skeletal dysplasia, expanding current understanding of how RNA-binding proteins contribute to the coordinated development and disease mechanisms…

This study demonstrated the therapeutic potential of oral infigratinib, a selective FGFR1–3 tyrosine kinase inhibitor, for children with achondroplasia. The findings represent an important step toward the transition from symptomatic…

This study suggested that hematopoietic stem/progenitor cell gene therapy may not only correct the underlying metabolic defect in Hurler syndrome but also improve skeletal, joint, and growth outcomes at an…

As the 2023 revision of the Nosology of Genetic Skeletal Disorders, this landmark work systematically cataloged 771 disease entities and 552 associated genes, providing the current international reference framework for…

This study uncovered the metabolic mechanism by which TGDS deficiency causes Catel–Manzke syndrome, demonstrating that the absence of an “enzyme-rescue metabolite” can disrupt skeletal development. The findings provide a novel…