A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia
نویسندگان
چکیده
Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease different subtypes that progress multiple dislocations. It occurs due to mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents short-bodied dwarfism, dislocations range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe an frame type deletion reported for first time. We also included step-by-step surgery program applied patient its results.
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ژورنال
عنوان ژورنال: Harran Üniversitesi T?p Fakültesi Dergisi
سال: 2022
ISSN: ['1304-9623', '1309-4025']
DOI: https://doi.org/10.35440/hutfd.1187444