A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
Summary
This report provides typical clinical, imaging, and genetic evidence for SEDC, confirming that a de novo mutation in the COL2A1 gene, c.2437G>A (p. Gly813Arg), causes SEDC in Chinese population. © 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.
| Authors | Zhou T, Yang X, Chen Z, Zhou Y, Cao X, Zhao C, Zhao J |
|---|---|
| Journal | Journal of clinical laboratory analysis |
| Publication Date | 2021 Apr;35(4):e23728 |
| PubMed | 33590889 |
| PubMed Central | PMC8059726 |
| DOI | 10.1002/jcla.23728 |