A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

Tangjun ZhouXiao YangZhiqian ChenYifan ZhouXiankun CaoChangqing ZhaoJie Zhao

Published in: Journal of clinical laboratory analysis (2021)

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.

Keyphrases

genome wide
copy number
high resolution
dna methylation
genome wide identification