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Article

Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.

Molecular genetics and genomics : MGG - 1 May 2023

Zhao Dichen, Sun Lei, Zheng Wenbin, Hu Jing, Zhou Bingna, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li Mei

Abstract excerpt

To study the effects of low-density lipoprotein receptor-related protein 5 (LRP5) gene mutations on bone, and to open up our view of LRP5 and Wnt pathways on bone mass regulation. Three patients with increased bone mineral density or thickened bone cortex were included, who were 30-year-old, 22-year-old and 50-year-old men, respectively. The latter two patients were son and father of a same family. The...

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Identifiers

PMID: 36971833
DOI: 10.1007/s00438-023-02008-2
PMCID: PMC10133070

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