Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report-Reference-Cited by-同舟云学术

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Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report

Published:2018-06-06 Issue: Volume: Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Report

Author:

Yan Wenjin¹,Dai Jin¹,Shi Dongquan¹,Xu Xingquan¹,Han Xiao¹,Xu Zhihong¹,Chen Dongyang¹,Teng Huajiang²,Jiang Qing¹

Affiliation:

1. Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University, Nanjing, Jiangsu 210008, P.R. China

2. Laboratory for Bone and Joint Disease, Model Animal Research Center (MARC), Nanjing University, Nanjing, Jiangsu 210093, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Cited by 6 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. Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review;Molecular Genetics and Metabolism Reports;2024-09

2. Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients;Journal of Human Genetics;2024-02-29

3. Le syndrome de Schwartz-Jampel;médecine/sciences;2023-11

4. Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review;Genes;2023-09-02

5. A Novel Pathogenic HSPG2 Mutation in Schwartz–Jampel Syndrome;Frontiers in Neurology;2021-03-09

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