Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous...

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Detalles Bibliográficos
Autores principales: Yuan, Lijuan, Chen, Xihui, Liu, Ziyu, Wu, Dan, Lu, Jianguo, Bao, Guoqiang, Zhang, Sijia, Wang, Lifeng, Wu, Yuanming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223238/
https://www.ncbi.nlm.nih.gov/pubmed/30352415
http://dx.doi.org/10.1530/EC-18-0326

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