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http://dx.doi.org/10.5734/JGM.2012.9.1.31

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation  

Kim, Hyun-Jin (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Ok-Hwa (Department of Radiology, Ajou University Hospital)
Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Publication Information
Journal of Genetic Medicine / v.9, no.1, 2012 , pp. 31-34 More about this Journal
Abstract
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
Keywords
X-linked skeletal dysplasia; TRAPPC2 gene; Spondyloepiphyseal dysplasia tarda;
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