Article
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.
Calcified tissue international - 1 Oct 2015
Yuan Lu, Chen Ling, Liao Ruo-xi, Lin Yuan-yuan, Jiang Yan, Wang Ou, Li Mei, Xing Xiao-Ping, Pang Qian-Qian, Jiajue Ruizhi, Xia Wei-bo
Abstract excerpt
Primary hypertrophic osteoarthropathy (PHO) is a hereditary bone disease characterized by digital clubbing, periostosis, and pachydermia. The HPGD gene encoding 15-prostaglandin dehydrogenase and SLCO2A1 encoding one type of prostaglandin transporter were found to be responsible for PHO. Mutations of either gene would lead to increased level of prostaglandin E2 (PGE2), which might contribute to the constellation...
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