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Articles

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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By Pakistan Museum, Tufail Akbar, Nimra Obaid, Syeda Afifa
| karger.com
Background: 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. Methods and Results: In the present study, we clinically and genetically characterized a consanguineous Pakistani family with SED-CJD.
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