A case of X-linked spondyloepiphyseal dysplasia tarda with TRAPPC2 gene mutation

王莉莉，吴海瑛，孙辉，等

doi:10.3969/j.issn.1000-3606.2020.05.001

Journal of Clinical Pediatrics >

2020 , Vol. 38 >Issue 5: 321

DOI: https://doi.org/10.3969/j.issn.1000-3606.2020.05.001

A case of X-linked spondyloepiphyseal dysplasia tarda with TRAPPC2 gene mutation

王莉莉，吴海瑛，孙辉，等

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Department of Endocrinology, Metabolism and Genetic Disorders, Children's Hospital of Soochow University, Suzhou 215000, Jaingsu, China

Online published: 2020-06-02

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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 (

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