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Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. The case of a Chinese family with two affected individuals is reported in the present study in order to investigate the clinical characteristics and virulence genes of this sclerosing bone disorder.

The A242T Mutation in the Low-density Lipoprotein Receptor-related Protein 5 Gene in One Chinese Family with Osteosclerosis