A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese fa...
A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
About this item
Full title
Author / Creator
Xiong, Qiuhong , Liu, Yi , Xue, Yu , Liu, Shichao , Wang, Jing , Li, Ping , Wu, Changxin , Yang, Yanling and Xiao, Han
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel
de novo
mutation in the
COL2A1
gene, c.1150G>A (p.Gly...
Alternative Titles
Full title
A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5763142
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5763142
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/hgv.2017.59
