Article
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.
Gene - 25 May 2013
Zhang Zeng, He Jin-Wei, Fu Wen-Zhen, Zhang Chang-Qing, Zhang Zhen-Lin
Abstract excerpt
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes. PHO is characterized by digital clubbing, periostosis and pachydermia. Two genes are known to be...
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