Worth type autosomal dominant osteosclerosis

Definition:

Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt.

References:

[1]. Liesbeth Van Wesenbeeck, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. [Content Brief]

[2]. M I Gelman, et al. Autosomal dominant osteosclerosis. Radiology. 1977 Nov;125(2):289-96. [Content Brief]

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