2024
DOI: 10.1159/000538039
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A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Tufail Akbar Mughal,
Muhammad Asim,
Syed Haseeb ul Hassan Gillani
et al.

Abstract: <b><i>Background:</i></b> Spondyloepiphyseal dysplasia (SED) is characterized by skeletal dysplasia and multiple joint dislocations. SEDs encompass various types, such as SED congenita, SED tarda (SED-T), SED with congenital joint dislocations (SED-CJD), SED stanescu, and SED-T with progressive arthropathy. <b><i>Methods and Results:</i></b> In the present study, we clinically and genetically characterized a consanguineous Pakistani family with SED-CJD. The affec… Show more

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