open access
Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation
Affiliations- Department of Growth and Development, Capital Institute of Paediatrics, Beijing, China
- Graduate School of Peking Union Medical College, Beijing, China
open access
Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
X-linked spondyloepiphyseal dysplasia tarda; TRAPPC2 gene; growth deficiency; growth hormone
About this articleTitle
Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation
Journal
Issue
Article type
Clinical vignette
Pages
410-411
Published online
2021-05-17
Page views
948
Article views/downloads
605
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2021;72(4):410-411.
Keywords
X-linked spondyloepiphyseal dysplasia tarda
TRAPPC2 gene
growth deficiency
growth hormone
Authors
Yang Li
Huahong Wu
Hui Li
References (6)- Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, et al. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet. 1988; 81(1): 61–63.
- Sacher M, Jiang Y, Barrowman J, et al. TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J. 1998; 17(9): 2494–2503.
- Fiedler J, Le Merrer M, Mortier G, et al. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat. 2004; 24(1): 103.
- Lin Y, Rao Sq, Yang Y, et al. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008; 25(2): 150–153.
- Shaw MA, Brunetti-Pierri N, Kádasi L, et al. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003; 64(3): 235–242.
- Li H, Chai Xj, Lu L, et al. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 2014; 31(5): 604–607.
