title: Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.
abstract: Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Obstetrics and Perinatology, Maternal and Perinatal Care Center, Seirei Hamamatsu General Hospital , Shizuoka, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Matsushita
authors.affiliation: Department of Radiology, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa