Osteogenesis imperfecta type vi with severe bony deformities caused by novel compound heterozygous mutations in serpinf1

Journal of Korean Medical Science

Volumn 28, Issue 7, 2013, Pages 1107-1110

  Cho, Sung Yoon ^a   Ki, Chang Seok ^b   Sohn, Young Bae ^c   Kim, Su Jin ^d   Maeng, Se Hyun ^a   Jin, Dong Kyu ^a  

^a Departments of 1Pediatrics   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Ajou University Medical CentSuwon   (South Korea)

^d Kwandong University College of Medicine   (South Korea)

Author keywords

Osteogenesis imperfect type VI; Osteogenesis imperfecta; Pigment epithelium derived factor; SERPINF1

Indexed keywords

COLLAGEN TYPE 1; EYE PROTEIN; NERVE GROWTH FACTOR; PIGMENT EPITHELIUM DERIVED FACTOR; PIGMENT EPITHELIUM-DERIVED FACTOR; SERINE PROTEINASE INHIBITOR;

ARTICLE; BONE DENSITY; CASE REPORT; CHILD; FEMALE; FRACTURE; GENETICS; HUMAN; OSTEOGENESIS IMPERFECT TYPE VI; OSTEOGENESIS IMPERFECTA; SERPINF1;

OSTEOGENESIS IMPERFECT TYPE VI; OSTEOGENESIS IMPERFECTA; PIGMENT EPITHELIUM-DERIVED FACTOR; SERPINF1;

BONE DENSITY; CHILD; COLLAGEN TYPE I; EYE PROTEINS; FEMALE; FRACTURES, BONE; HUMANS; NERVE GROWTH FACTORS; OSTEOGENESIS IMPERFECTA; SERPINS;

EID: 84880704219     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2013.28.7.1107     Document Type: Article

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