- Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
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Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK
- KMID: 1777512
- J Korean Med Sci.
- 2013 Jul;28(7):1107-1110.
- doi: 10.3346/jkms.2013.28.7.1107
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in... -
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- Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings
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Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH
- KMID: 754070
- Korean J Radiol.
- 2002 Jun;3(2):113-124.
- doi: 10.3348/kjr.2002.3.2.113
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps... -
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