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 Feb 16;:e23728
PubMed 33590889
DOI 10.1002/jcla.23728

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