title: CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
authors.affiliation: Center for Genomic Medicine, RIKEN, Tokyo, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Furuichi
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Masahide
authors.initials: M
authors.lastname: Ikema
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Matsui
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D019465:Craniofacial Abnormalities / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D004392:Dwarfism / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007593:Joint Instability / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009708:Nucleotidases / Q000737:chemistry / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D017689:Polydactyly / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D016415:Sequence Alignment
chemical_list: C551404:CANT1 protein, human; D009708:Nucleotidases