- 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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