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Letter

Nature Genetics 40, 789–793 (1 June 2008) | doi:10.1038/ng.153

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Sandeep Uppal , Christine P Diggle , Ian M Carr , Colin W G Fishwick , Mushtaq Ahmed , Gamal H Ibrahim , Philip S Helliwell , Anna Latos-Biele|[nacute]|ska , Simon E V Phillips , Alexander F Markham , Christopher P Bennett & David T Bonthron

Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized.