A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas-Reference-Cited by-同舟云学术

A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas

Published:2020-08-01 Issue:8 Volume:24 Page:478-483
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Chen Zhonghua¹,Ruan Weiwei²,Li Menglu³,Cao Li¹,Lu Jianwei²,Zhong Fuhua²,Bi Qing¹

Affiliation:

1. Department of Orthopedics and Joint Surgery, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, P.R. China.

2. Department of Orthopedics, Tongde Hospital of Zhejiang Provincial, Hangzhou, P.R. China.

3. Institute of Cancer Research and Basic Medical Sciences, Cancer Hospital of University Academy of Sciences, Zhejiang Cancer Hospital, Hangzhou, P.R. China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2020.0017

Reference34 articles.

1. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

2. The genotype-phenotype correlation of hereditary multiple exostoses

3. Evaluation of the Anatomic Burden of Patients with Hereditary Multiple Exostoses

4. Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application

5. Identification of unique molecular subdomains in the perichondrium and periosteum and their role in regulating gene expression in the underlying chondrocytes

Cited by 3 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. Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation;Molecular Medicine Reports;2022-02-24

2. Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas;Genetic Testing and Molecular Biomarkers;2021-02-01

3. Osteochondromas: An Updated Review of Epidemiology, Pathogenesis, Clinical Presentation, Radiological Features and Treatment Options;In Vivo;2021