Osteogenesis imperfecta: A review with clinical examples

Molecular Syndromology

Volumn 2, Issue 1, 2011, Pages 1-20

  Van Dijk, F S ^a   Cobben, J M ^b   Kariminejad, A ^e   Maugeri, A ^a   Nikkels, P G J ^d   Van Rijn, R R ^c   Pals, G ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

Author keywords

Collagen type I; Fractures; Osteogenesis imperfecta

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; CYCLOPHILIN B; GROWTH HORMONE; PROTEOGLYCAN; TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR SOX9;

ALLELE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BONE DEFORMATION; BONE MALFORMATION; BONE MATRIX; BONE MINERALIZATION; BREECH EXTRACTION; CALLUS; CARTILAGE CELL; CESAREAN SECTION; CHORION VILLUS SAMPLING; COLLAGEN SYNTHESIS; COMPRESSION FRACTURE; COXA VARA; CYTOPLASM; DEATH; DENTAL CARE; DIAPHYSIS; DISEASE SEVERITY; ECHOGRAPHY; ENCHONDRAL OSSIFICATION; EXTRACELLULAR MATRIX; FRACTURE; GENE THERAPY; GENETIC COUNSELING; GENOTYPE; GOLGI COMPLEX; HEARING AID; HEARING LOSS; HISTORY; HUMAN; INVAGINATION; JOINT HYPERMOBILITY; NEUROLOGICAL COMPLICATION; ORTHOPEDIC SURGERY; OSSIFICATION; OSTEOCLAST; OSTEOCYTE; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PATHOGENESIS; PHENOTYPE; PHYSICAL MEDICINE; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RADIOGRAPHY; RECURRENCE RISK; RESPIRATORY TRACT DISEASE; REVIEW; ROUGH ENDOPLASMIC RETICULUM; SCLERA; SCOLIOSIS; SHORT STATURE; TOOTH MALFORMATION; TRABECULAR BONE;

EID: 83055163326     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000332228     Document Type: Review

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