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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Detalles Bibliográficos
Autores principales: Nakano, Yukako, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Miyoshi, Yoko, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036882/
https://www.ncbi.nlm.nih.gov/pubmed/36968251
http://dx.doi.org/10.1016/j.bonr.2023.101673

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