A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.

Jing HuLu-Jiao LiWen-Bin ZhengDi-Chen ZhaoOu WangYan JiangXiao-Ping XingMei LiWeibo Xia

Published in: Molecular genetics & genomic medicine (2020)

We first identify a novel mutation in PLS3 that led to rare X-linked OI and provide practical information for the diagnosis and treatment of this disease.

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healthcare