Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia-Reference-Cited by-同舟云学术

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

Published:2017-11-21 Issue:1 Volume:93 Page:182-186
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Tariq M.¹,Khan T.N.¹,Lundin L.²,Jameel M.¹,Lönnerholm T.²,Baig S.M.¹,Dahl N.³,Klar J.³^ORCID

Affiliation:

1. Human Molecular Genetics Laboratory, Health Biotechnology Division; National Institute for Biotechnology and Genetic Engineering (NIBGE); Faisalabad Pakistan

2. Department of Surgical Sciences; Uppsala University; Uppsala Sweden

3. Department of Immunology, Genetics and Pathology, Science for Life Laboratory; Uppsala University; Uppsala Sweden

Funder

Vetenskapsrådet

Uppsala Universitet

Higher Education Commission, Pakistan

Svenska Sällskapet för Medicinsk Forskning

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13091/fullpdf

Reference15 articles.

1. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations;Briggs;Hum Mutat,2002

2. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution;Jackson;Hum Mutat,2012

3. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia;Deere;Am J Med Genet,1998

4. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016

5. Growth centile charts (anthropometric measurement) of Pakistani pediatric population;Aziz;J Pak Med Assoc,2012

Cited by 5 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. A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance;International Journal of Translational Medicine;2022-06-05

2. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients;American Journal of Medical Genetics Part A;2021-11-09

3. Bilateral stemless shoulder hemiarthroplasty in a female patient suffering from pseudoachondroplasia: A case report;Journal of Orthopaedic Science;2021-07

4. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia;The Journal of Gene Medicine;2019-07-11

5. A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary;Meta Gene;2019-06