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The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

BACKGROUND: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively...

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Detalles Bibliográficos
Autores principales: Pang, Qianqian, Xu, Yuping, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Qin, Ling, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547301/
https://www.ncbi.nlm.nih.gov/pubmed/31063976
http://dx.doi.org/10.1530/EC-19-0149