title: TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
authors.affiliation: Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.|Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.affiliation: Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Fukumaki
authors.affiliation: Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.
authors.forename: Shuya
authors.initials: S
authors.lastname: Shirahama
authors.affiliation: Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Miyahara
authors.affiliation: Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Haga
authors.affiliation: Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Namba
authors.affiliation: Division of Pediatric Neurology, Osaka Medical Center and Research for Maternal and Child Health, Osaka, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ueda
authors.affiliation: Department of Community and General Medicine, Sapporo Medical University, Sapporo, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Hayashi
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.affiliation: Department of Pediatrics and Clinical Genetics, Friedrich-Schiller University of Jena, Jena, Germany.
authors.forename: Joerg
authors.initials: J
authors.lastname: Seidel
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
authors.forename: Koh-Ichiro
authors.initials: KI
authors.lastname: Yoshiura
mesh_terms: D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
chemical_list: C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1