Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

Van Dijk, F S; Sillence, D O

Van Dijk, F S; Sillence, D O.

Affiliation

Van Dijk FS; Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

Am J Med Genet A ; 164A(6): 1470-81, 2014 Jun.

Article in En | MEDLINE | ID: mdl-24715559

Subject(s)

Fractures, Bone/genetics; Osteogenesis Imperfecta/classification; Osteogenesis Imperfecta/diagnosis; Collagen Type I/genetics; Collagen Type I, alpha 1 Chain; Extracellular Matrix Proteins/genetics; Humans; Molecular Chaperones; Osteogenesis Imperfecta/genetics; Osteogenesis Imperfecta/pathology; Osteoporosis/genetics; Phenotype

Key words

classification; collagen type I; fractures; heterogeneity; osteogenesis imperfecta

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Fractures, Bone Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Netherlands Country of publication: United States

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