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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Endocr Connect
Main Authors: Pang, Qianqian, Xu, Yuping, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Qin, Ling, Xia, Weibo
Format: Artigo
Jezik:Inglês
Izdano: Bioscientifica Ltd 2019
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6547301/
https://ncbi.nlm.nih.gov/pubmed/31063976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-19-0149
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