A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference11 articles.
1. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations;Wang;J Hum Genet,2017
2. Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations;Wang;PLoS One,2016
3. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia;Ikegawa;Am J Hum Genet,1998
4. Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues;Schmid;J Cell Biol,1985
5. Isolation of human type X collagen and immunolocalization in fetal human cartilage;Kirsch;Eur J Biochem,1991
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