Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing-Reference-Cited by-同舟云学术

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing

Published:2021-08-17 Issue:9 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Yang Mei¹²,Xie Hanbing¹²,Xu Bocheng¹²,Xiang Qinqin¹²,Wang He¹²,Hu Ting¹²^ORCID,Liu Shanling¹²^ORCID

Affiliation:

1. Department of Obstetrics & Gynecology West China Second University Hospital Sichuan University Chengdu Sichuan China

2. Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education Sichuan University Chengdu Sichuan China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23968

Reference35 articles.

1. Natural history study of hereditary multiple exostoses

2. Toward an understanding of the short bone phenotype associated with multiple osteochondromas

3. Novel and recurrent mutations in the EXT 1 and EXT 2 genes in Chinese kindreds with multiple osteochondromas

4. The natural history of hereditary multiple exostoses.

5. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

Cited by 2 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. Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome;American Journal of Medical Genetics Part A;2023-12-06

2. A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis;Molecular Genetics & Genomic Medicine;2022-08