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Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review

Abstract Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder primarily characterized by digital clubbing, pachydermia, and periostitis. The rarity of this disease often leads to misdiagnosis or delayed diagnosis. Methods We describe the clinical and genetic findings of...

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Furkejuvvon:
Váldodahkkit: Jun Li, Shilei Jia, Jianqun Guo, Wenhui Xie, Yijiao Ma, Xiaojie Gao, Meihao Gao
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: BMC 2025-03-01
Ráidu:BMC Pediatrics
Fáttát:
Primary hypertrophic osteoarthropathy
HPGD
Gene variant
Early diagnosis
Genetic disorder
Liŋkkat:https://doi.org/10.1186/s12887-025-05590-z
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