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PUMCH scholar discovers pathogenic gene of primary hypertrophic osteoarthropathy Wei-Bo Xia
CopyFrom: PUMCH UpdateTime: 2015-06-15 Hits: 117 Font Size: SmallBig

Primary hypertrophic osteoarthropathy (PHOA) is a kind of serious genetic skeletal disorder, mainly characterized by pachydermia (thickening of the skin), periostosis (excessive bone formation) and finger clubbing (swelling of tissue with loss of normal angle between nail and nail bed). PUMCH, in cooperation with Shanghai No.6 People’s Hospital, is the first to report SLCO2A1 as the pathogenic gene of PHOA, making it the world’s13th curable monogenic bone metabolic disease. The relevant thesis was published in the American Journal of Human Genetics (AJHG), with a SCI rate of 10.636.