Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.

Huixiao WuShuping WangGuimei LiYangyang YaoNing WangXiaoqing SunLi FangXiuyun JiangJiajun ZhaoYanzhou WangChao Xu

Published in: Molecular genetics & genomic medicine (2021)

The NC1 domain of COL10A1 was proved to be the hotspot region underlying SMCD, patients with variants in NC1 domain were more likely to present severer manifestations at an earlier age.

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