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

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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