Osteogenesis imperfecta without features of type v caused by a mutation in the IFITM5 gene

Journal of Bone and Mineral Research

Volumn 28, Issue 11, 2013, Pages 2333-2337

  Grover, Monica ^a   Campeau, Philippe M ^a   Lietman, Caressa Dee ^a   Lu, James T ^a   Gibbs, Richard A ^a   Schlesinger, Alan E ^a   Lee, Brendan H ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

HYPERPLASTIC CALLUS; IFITM5; INTEROSSEOUS MEMBRANE CALCIFICATION; OSTEOGENESIS IMPERFECTA; TYPE V; WHOLE EXOME SEQUENCING

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; COLLAGEN TYPE 1; PAMIDRONIC ACID; VITAMIN D; ZOLEDRONIC ACID;

ARTICLE; BONE BOWING; BONE RADIOGRAPHY; CALLUS; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; DNA DETERMINATION; FACIES; FEMALE; FRACTURE; GENE MUTATION; HUMAN; OSTEOGENESIS IMPERFECTA; PATHOPHYSIOLOGY; PHYSIOTHERAPY; PRESCHOOL CHILD; RADIUS; RECURRENT DISEASE; RIB FRACTURE; SCREENING; SMALL FOR DATE INFANT; ULNA;

HYPERPLASTIC CALLUS; IFITM5; INTEROSSEOUS MEMBRANE CALCIFICATION; OSTEOGENESIS IMPERFECTA; TYPE V; WHOLE EXOME SEQUENCING;

BASE SEQUENCE; CHILD; FEMALE; FOREARM; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE;

EID: 84886833755     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1983     Document Type: Article

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