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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...
Autores principales: | Pang, Qianqian, Xu, Yuping, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Qin, Ling, Xia, Weibo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2019
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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 |
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