Article
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.
Journal of dermatological science - 1 Oct 2012
Sasaki Takashi, Niizeki Hironori, Shimizu Atsushi, Shiohama Aiko, Hirakiyama Asami, Okuyama Torayuki, Seki Atsuhito, Kabashima Kenji, Otsuka Atsushi, Ishiko Akira, Tanese Keiji, Miyakawa Shun-ichi, Sakabe Jun-ichi, Kuwahara Masamitsu, Amagai Masayuki, Okano Hideyuki, Suematsu Makoto, Kudoh Jun
Abstract excerpt
BACKGROUND: Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by 3 major symptoms: pachydermia including cutis verticis gyrata (CVG), periostosis, and finger clubbing. Recently, a homozygous mutation in the gene HPGD, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), was found to be associated with PDP. However, mutations in HPGD have not been identified in Japanese PDP patients....
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