Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Gen
G
Nishimura
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Masahiro
M
Nakajima
Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
Kazuharu
K
Takikawa
Department of Rehabilitation Medicine, University of Tokyo, Tokyo, Japan.
Nobuhiko
N
Haga
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Shiro
S
Ikegawa
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009929:Organ Size; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D024042:Collagen Type I