We have located links that may give you full text access.
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
Joint, Bone, Spine : Revue du Rhumatisme 2014 January
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies. SEDC is caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We screened COL2A1 gene mutations in four affected individuals from a Chinese family with SEDC. A novel missense mutation c.3257G>T (p.G1086V), which located in the triple-helical domain, was identified in the SEDC patients. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app