A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
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 Feb 16;:e23728|