A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have...

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Main Authors: Yukako Nakano, Yasuhisa Ohata, Makoto Fujiwara, Takuo Kubota, Yoko Miyoshi, Keiichi Ozono
格式: 文件
语言:English
出版: Elsevier 2023-06-01
丛编:Bone Reports
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在线阅读:http://www.sciencedirect.com/science/article/pii/S2352187223000219