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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Autori principali:	Jun Li, Shilei Jia, Jianqun Guo, Wenhui Xie, Yijiao Ma, Xiaojie Gao, Meihao Gao
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-03-01
Serie:	BMC Pediatrics
Soggetti:	Primary hypertrophic osteoarthropathy HPGD Gene variant Early diagnosis Genetic disorder
Accesso online:	https://doi.org/10.1186/s12887-025-05590-z
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