Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1972-1979

  Kim, Ok Hwa ^a   Jin, Dong Kyu ^b   Kosaki, Keisuke ^c   Kim, Jung Wook ^d   Cho, Sung Yoon ^b   Yoo, Won Joon ^e   Choi, In Ho ^e   Nishimura, Gen ^f   Ikegawa, Shiro ^g   Cho, Tae Joon ^e  

^a Ajou University School of Medicine   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c UNIVERSITY OF TOKYO   (Japan)

^d Seoul National University   (South Korea)

^e Seoul National University Children's Hospital   (South Korea)

^f TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^g RIKEN   (Japan)

Author keywords

Fractures; Heterotopic ossification; Hyperplastic callus; Interosseous membrane; Osteogenesis imperfecta

Indexed keywords

ADULT; ANKYLOSIS; ARTICLE; BONE DEMINERALIZATION; BONE RADIOGRAPHY; CALLUS; CHILD; CLINICAL ARTICLE; COMPRESSION FRACTURE; CONTRACTURE; CONTROLLED STUDY; DISLOCATION; FAMILIAL DISEASE; FEMALE; FRACTURE; GENE MUTATION; HETEROTOPIC OSSIFICATION; HUMAN; HYPODONTIA; INFANT; MALE; MALOCCLUSION; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 5; PATIENT MOBILITY; PHENOTYPE; PRIORITY JOURNAL; RANGE OF MOTION; SKELETON MALFORMATION; TOOTH MALFORMATION;

FRACTURES; HETEROTOPIC OSSIFICATION; HYPERPLASTIC CALLUS; INTEROSSEOUS MEMBRANE; OSTEOGENESIS IMPERFECTA;

ADULT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; DNA; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 84880723032     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36024     Document Type: Article

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