Journal of Clinical Pediatrics ›› 2020, Vol. 38 ›› Issue (5): 321-.doi: 10.3969/j.issn.1000-3606.2020.05.001
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WANG Lili, WU Haiying, SUN Hui, WANG Xiaoyan, ZHANG Dandan, XIE Rongrong, WANG Fengyun, CHEN Ting, CHEN Xiuli, CHEN Linqi
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Abstract: Objective To analyze the clinical and genetic characteristics of X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) caused by the mutation of TRAPPC2 gene. Methods The clinical data and genetic results of a SEDT-XL family were retrospectively analyzed. Results The proband, a 9 years and 2 months old boy, was 115 cm (
Key words: X-linked spondyloepiphyseal dysplasia tarda; TRAPPC2 gene; genetic mutation
WANG Lili, WU Haiying, SUN Hui, et al. A case of X-linked spondyloepiphyseal dysplasia tarda with TRAPPC2 gene mutation[J].Journal of Clinical Pediatrics, 2020, 38(5): 321-.
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URL: https://jcp.xinhuamed.com.cn/EN/10.3969/j.issn.1000-3606.2020.05.001
https://jcp.xinhuamed.com.cn/EN/Y2020/V38/I5/321
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