Article
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 2 Sept 2024
Tan Zhijia, Chen Peikai, Zhang Jianan, Shek Hiu Tung, Li Zeluan, Zhou Xinlin, Zhou Yapeng, Yin Shijie, Dong Lina, Feng Lin, Wong Janus Siu Him, Gao Bo, To Michael Kai Tsun
Abstract excerpt
Osteogenesis imperfecta (OI) is a group of severe genetic bone disorders characterized by congenital low bone mass, deformity, and frequent fractures. Type XV OI is a moderate to severe form of skeletal dysplasia caused by WNT1 variants. In this cohort study from southern China, we summarized the clinical phenotypes of patients with WNT1 variants and found that the proportion of type XV patients was around 10.3%...
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