title: The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.
authors.affiliation: Department of Dermatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan. Electronic address: niizeki-h@ncchd.go.jp.
authors.forename: H
authors.initials: H
authors.lastname: Niizeki
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Shiohama
authors.affiliation: Center for Integrated Medical Research, Keio University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Department of Orthopedics, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Seki
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kabashima
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Otsuka
authors.affiliation: Department of Orthopedic Surgery, University of Tokyo, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ogo
authors.affiliation: Department of Dermatology, Himeji Red Cross Hospital, Hyogo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.affiliation: Department of Radiology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Miyasaka
authors.affiliation: Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Matsuoka
authors.affiliation: Department of Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hirakiyama
authors.affiliation: Department of Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Okuyama
authors.affiliation: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nakabayashi
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tanese
authors.affiliation: Department of Dermatology, School of Medicine, Toho University, Ota-ku, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishiko
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Amagai
authors.affiliation: Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
mesh_terms: D000483:Alleles; D018389:Codon, Nonsense; D018388:Codon, Terminator; D015232:Dinoprostone / Q000235:genetics; D005091:Exons; D006579:Heterozygote; D006801:Humans; D006911:Hydroxyprostaglandin Dehydrogenases / Q000235:genetics; D007438:Introns; D008297:Male; D027361:Organic Anion Transporters / Q000235:genetics*; D010004:Osteoarthropathy, Primary Hypertrophic / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human; D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase; D015232:Dinoprostone
keywords: HPGD; Pachydermoperisotosis; Primary hypertrophic osteoarthropathy; Prostaglandin E2; SLCO2A1