Publications
New Articles from the Membership
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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis
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…
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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
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…
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Oral Infigratinib Therapy in Children with Achondroplasia
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…
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Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
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…
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Nosology of genetic skeletal disorders: 2023 revision
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…
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A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
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…