title: A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.
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 Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yagi
authors.affiliation: Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yoshie
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shinohara
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Ryojun
authors.initials: R
authors.lastname: Takeda
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Shimada
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 Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan ; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa