Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1470-1481

  Van Dijk, F S ^a   Sillence, D O ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b University of Sydney   (Australia)

Author keywords

Classification; Collagen type I; Fractures; Heterogeneity; Osteogenesis imperfecta

Indexed keywords

ANALGESIC AGENT; BISPHOSPHONIC ACID DERIVATIVE; MORPHINE; PAMIDRONIC ACID; PLACEBO; ALPHA 2(I) COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN; CRTAP PROTEIN, HUMAN; SCLEROPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BONE FRAGILITY; BONE PAIN; BONE RADIOGRAPHY; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; FAMILY STUDY; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; INHERITANCE; MEDICAL EXAMINATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NOMENCLATURE; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 1; OSTEOGENESIS IMPERFECTA TYPE 2; OSTEOGENESIS IMPERFECTA TYPE 3; OSTEOGENESIS IMPERFECTA TYPE 4; OSTEOGENESIS IMPERFECTA TYPE 5; OSTEOPOROSIS; PERINATAL PERIOD; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; TOOTH MALFORMATION; X CHROMOSOME LINKED DISORDER; CLASSIFICATION; FRACTURE; GENETICS; PATHOLOGY;

COLLAGEN TYPE I; EXTRACELLULAR MATRIX PROTEINS; FRACTURES, BONE; HUMANS; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; PHENOTYPE;

EID: 84899980115     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36545     Document Type: Article

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