open access

Vol 72, No 4 (2021)
Clinical vignette
Submitted: 2021-03-15
Accepted: 2021-04-23
Early publication date: 2021-05-17
Get Citation

Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation

Yang Li12, Huahong Wu1, Hui Li12
DOI: 10.5603/EP.a2021.0051
·
Pubmed: 34010451
·
Endokrynol Pol 2021;72(4):410-411.
Affiliations
  1. Department of Growth and Development, Capital Institute of Paediatrics, Beijing, China
  2. Graduate School of Peking Union Medical College, Beijing, China

open access

Vol 72, No 4 (2021)
Clinical Vignette
Submitted: 2021-03-15
Accepted: 2021-04-23
Early publication date: 2021-05-17

Abstract

Not required for Clinical Vignette.

Abstract

Not required for Clinical Vignette.

Get Citation

Keywords

X-linked spondyloepiphyseal dysplasia tarda; TRAPPC2 gene; growth deficiency; growth hormone

About this article
Title

Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation

Journal

Endokrynologia Polska

Issue

Vol 72, No 4 (2021)

Article type

Clinical vignette

Pages

410-411

Early publication date

2021-05-17

Page views

569

Article views/downloads

263

DOI

10.5603/EP.a2021.0051

Pubmed

34010451

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)
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.

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