A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of <i>TRAPPC2</i>-Reference-Cited by-同舟云学术

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A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

Published:2015 Issue:3 Volume:24 Page:139-141
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Takagi Masaki¹²,Yagi Hiroko³,Nakamura Yoshie³,Shinohara Hiroyuki²,Takeda Ryojun²,Shimada Aya²,Nishimura Gen⁴,Hasegawa Yukihiro²³

Affiliation:

1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

2. Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

3. Department of Genetic Research, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

4. Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/24/3/24_2014-0002/_pdf

Reference4 articles.

1. 1. Whyte, MP, Gottesman, GS, Eddy, MC, McAlister, WH. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore) 1999;78: 9–25.

2. 2. Fiedler, J, Le Merrer, M, Mortier, G, Heuertz, S, Faivre, L, Brenner, RE. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat 2004;24: 103.

3. 3. Gedeon, AK, Colley, A, Jamieson, R, Thompson, EM, Rogers, J, Sillence, D, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999;22: 400–4.

4. 4. Fan, L, Yu, W, Zhu, X. Interaction of Sedlin with chloride intracellular channel proteins. FEBS Lett 2003;540: 77–80.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New insights into KATP channel gene mutations and neonatal diabetes mellitus;Nature Reviews Endocrinology;2020-05-06

2. Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report;Journal of Medical Case Reports;2019-08-01

3. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL);International Journal of Endocrinology;2018-12-10

4. TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)‐associated proteins;Traffic;2018-09-24

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