The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

H. Niizeki, A. Shiohama, T. Sasaki, A. Seki, K. Kabashima, A. Otsuka, M. Takeshita, A. Hirakiyama, T. Okuyama, K. Tanese, A. Ishiko, M. Amagai, J. Kudoh

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